Mendeliome (Version 1.2302)

Description

This panel was developed and is maintained by VCGS, and contains genes currently associated with Mendelian gene disorders. This excludes genes listed in the Incidentalome. It is a consensus panel used by RMH.

Panel Activity

72 reviewers

(Other)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sebastian Lunke (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Bryony Thompson (Royal Melbourne Hospital)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Andrew Fennell (Monash Genetics)
Natalie Tan (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Kristin Rigbye (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Lauren Akesson (Royal Melbourne Hospital)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Monash Genetics)
Anna Le Fevre (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Hazel Phillimore (Victorian Clinical Genetics Services)
Shannon Cowie (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Russell Gear (Victorian Clinical Genetics Services)
Chloe Stutterd (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Sarah Leigh (Genomics England)
Sarah Righetti (University of New South Wales)
Arina Puzriakova (Genomics England)
Katie Ayers (Murdoch Children's Research Institute)
Alison Compton (Murdoch Children's Research Institute)
Laura Raiti (Royal Children's Hospital, Melbourne)
Krithika Murali (Victorian Clinical Genetics Services)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Lucy Spencer (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Healius Pathology)
Paul De Fazio (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Peter McNaughton (Queensland Children's Hospital)
Karina Sandoval (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Xinyu Zhang (Monash University)
Achchuthan Shanmugasundram (Genomics England)
Yetong Chen (University of Melbourne)
Sangavi Sivagnanasundram (Melbourne Health)
Rylee Peters (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Natalie Tan (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Chris Ciotta (Victorian Clinical Genetics Services)
Hali Van Niel (University of Melbourne)
Santosh Varughese (University of Melbourne)
Andrew Coventry (Victorian Clinical Genetics Services)
Jonathon Bradshaw (Victorian Clinical Genetics Services)

5495 Entities

5495 reviewed, 4017 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 5495 Entitiess
Green List (high evidence)	AAGAB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keratoderma, palmoplantar, punctate type IA (MIM#148600) Tags
Green List (high evidence)	AARS	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 Spastic paraplegia 85, autosomal recessive, MIM# 619686 Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 Tags
Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Leukoencephalopathy, progressive, with ovarian failure MIM#615889 MONDO:0013570 Tags
Green List (high evidence)	ABAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM# 613163 mtDNA depletion syndrome (MDS) Tags
Green List (high evidence)	ABCA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tangier disease, MIM# 205400 HDL deficiency, familial, 1, MIM# 604091 Tags
Green List (high evidence)	ABCA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 4A (MIM#601277) Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500) Tags
Green List (high evidence)	ABCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Tags
Green List (high evidence)	ABCA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 Tags
Green List (high evidence)	ABCA4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 3, 604116 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa 19, 601718 Stargardt disease 1, 248200 Tags deep intronic
Green List (high evidence)	ABCB11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 2, MIM# 601847 Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 Tags
Green List (high evidence)	ABCB4	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 disorder of bile acid metabolism Gallbladder disease 1 (MIM#600803) Tags
Green List (high evidence)	ABCB6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153 Microphthalmia, isolated, with coloboma 7, MIM# 614497 Dyschromatosis universalis hereditaria 3, MIM# 615402 Tags
Green List (high evidence)	ABCB7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green List (high evidence)	ABCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dubin-Johnson syndrome, MIM# 237500 Tags
Green List (high evidence)	ABCC6	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial calcification, generalized, of infancy, 2, MIM# 614473 Pseudoxanthoma elasticum, MIM# 264800 Pseudoxanthoma elasticum, forme fruste, MIM#177850 Tags SV/CNV treatable
Green List (high evidence)	ABCC8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, noninsulin-dependent MIM#125853 Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857 Diabetes mellitus, transient neonatal 2 MIM#610374 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 Hypoglycemia of infancy, leucine-sensitive MIM#240800 Tags
Green List (high evidence)	ABCC9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome Intellectual disability and myopathy syndrome, MIM# 619719 Tags
Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenoleukodystrophy MIM#300100 Tags
Green List (high evidence)	ABCD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 Tags
Green List (high evidence)	ABCG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sitosterolaemia 2, MIM# 618666 Tags clinical trial treatable
Green List (high evidence)	ABCG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sitosterolemia 1, MIM#210250 Tags
Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Green List (high evidence)	ABHD16A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities Tags
Green List (high evidence)	ABHD5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Chanarin-Dorfman syndrome MIM#275630 neutral lipid storage disease with ichthyosis non-bullous congenital ichthyosiform erythroderma Tags
Green List (high evidence)	ABL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects and skeletal malformations syndrome MIM#617602 Tags
Green List (high evidence)	ACAD8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Isobutyryl-CoA dehydrogenase deficiency MIM#611283 Tags
Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Tags treatable
Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags treatable
Green List (high evidence)	ACADSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 2-methylbutyrylglycinuria MIM#610006 Tags
Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes VLCAD deficiency, MIM# 201475 Tags treatable
Green List (high evidence)	ACAN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800 Spondyloepimetaphyseal dysplasia, aggrecan type 612813 Tags
Green List (high evidence)	ACAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alpha-methylacetoacetic aciduria, MIM#203750 Beta-ketothiolase deficiency MONDO:0008760 Tags treatable
Green List (high evidence)	ACBD5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinal dystrophy with leukodystrophy, MIM# 618863 Tags
Green List (high evidence)	ACBD6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green List (high evidence)	ACD	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes telomere syndrome MONDO:0100137 dyskeratosis congenita, autosomal dominant 6 MONDO:0014690 Hoyeraal-Hreidarsson syndrome MONDO:0018045 Tags
Green List (high evidence)	ACE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green List (high evidence)	ACER3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy Tags
Green List (high evidence)	ACO2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Optic atrophy 9, MIM# 616289 Tags
Green List (high evidence)	ACOX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green List (high evidence)	ACOX2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 6, 617308 Tags
Green List (high evidence)	ACP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IJ MIM#617297 Tags
Green List (high evidence)	ACP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944 Tags
Green List (high evidence)	ACSL4	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 63, MIM# 300387 XLD Tags
Green List (high evidence)	ACTA1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 2C, severe infantile, autosomal dominant, MIM# 620278 Myopathy, actin, congenital, with cores, MIM#161800 Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Myopathy, congenital, with fiber-type disproportion 1, MIM#255310 Nemaline myopathy 3, MIM#161800 ?Myopathy, scapulohumeroperoneal Tags
Green List (high evidence)	ACTB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 ACTB-related neurodevelopment disorder Tags
Green List (high evidence)	ACTC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Atrial septal defect 5 MIM#612794 Cardiomyopathy, dilated, 1R MIM#613424 Cardiomyopathy, hypertrophic, 11 MIM#612098 ACTC1 related distal arthrogryposis MONDO:0019942 Tags
Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 2 MIM#614583 Deafness, autosomal dominant 20/26 MIM#604717 Tags
Green List (high evidence)	ACTG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Visceral myopathy, MIM#155310 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 Tags
Green List (high evidence)	ACTL6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related Tags
Green List (high evidence)	ACTL6B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 76, MIM# 618468 Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470 Tags
Green List (high evidence)	ACTL9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 53, MIM#619258 Fertilization failure male infertility Tags
Green List (high evidence)	ACTN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 15, MIM# 615193 Tags
Green List (high evidence)	ACTN2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 6, adult onset MIM#618655 Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158 Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158 Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654 Tags
Green List (high evidence)	ACTN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 1, MIM#603278 Tags
Green List (high evidence)	ACVR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Congenital heart disease Tags clinical trial
Green List (high evidence)	ACVRL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 Tags
Green List (high evidence)	ACY1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Aminoacylase 1 deficiency, MIM# 609924 Tags
Green List (high evidence)	ADA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700 MONDO:0007064 Tags
Green List (high evidence)	ADA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags
Green List (high evidence)	ADAM17	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory neonatal-onset skin and bowel disease, MIM#614328 Tags
Green List (high evidence)	ADAM22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 61 (MIM#617933) Tags
Green List (high evidence)	ADAM9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 9 MIM#612775 Tags
Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Green List (high evidence)	ADAMTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150 Tags treatable
Green List (high evidence)	ADAMTS15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, distal, type 12, MIM# 620545 Tags
Green List (high evidence)	ADAMTS17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Tags
Green List (high evidence)	ADAMTS18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes microcornea-myopic chorioretinal atrophy (MONDO:0014195) Tags
Green List (high evidence)	ADAMTS19	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cardiac valvular dysplasia 2, MIM# 620067 Tags
Green List (high evidence)	ADAMTS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Tags
Green List (high evidence)	ADAMTS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Tags
Green List (high evidence)	ADAMTSL2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Geleophysic dysplasia 1, MIM# 231050 Dermatosparaxic Ehlers Danlos syndrome Tags
Green List (high evidence)	ADAMTSL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectopia lentis, isolated, autosomal recessive, MIM# 225100 Tags founder
Green List (high evidence)	ADAR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Dyschromatosis symmetrica hereditaria, MIM# 127400 Tags
Green List (high evidence)	ADARB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Intellectual disability microcephaly seizures Tags
Green List (high evidence)	ADAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 36, MIM#615286 Tags
Green List (high evidence)	ADCY5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskinesia, familial, with facial myokymia, MIM# 606703 MONDO:0011707 Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Tags
Green List (high evidence)	ADCY6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 8, OMIM # 616287 MONDO:0014570 Tags
Green List (high evidence)	ADD1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, ADD1-related Tags
Green List (high evidence)	ADD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Tags
Green List (high evidence)	ADGRG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags 5'UTR
Green List (high evidence)	ADGRG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 9 OMIM #616503 Tags
Green List (high evidence)	ADGRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Tags
Green List (high evidence)	ADGRV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Febrile seizures, familial, 4 MIM#604352 Usher syndrome, type 2C MIM#60547 Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 Tags
Green List (high evidence)	ADH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes AMED syndrome, digenic, MIM# 619151 Aplastic anaemia myelodysplasia short stature Tags
Green List (high evidence)	ADK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 Tags
Green List (high evidence)	ADNP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Helsmoortel-van der Aa syndrome MIM#615873 MONDO:0014379 Tags
Green List (high evidence)	ADPRHL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 Tags new gene name
Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Adenylosuccinase deficiency MIM#103050 Tags
Green List (high evidence)	ADSSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 5, MIM#617030 Tags
Green List (high evidence)	AEBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000 Tags
Green List (high evidence)	AFF2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, X-linked, FRAXE type, MIM#309548 Tags STR SV/CNV
Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green List (high evidence)	AFF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609 Tags
Green List (high evidence)	AFG3L2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977 Tags
Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 Tags
Green List (high evidence)	AGBL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Retinitis pigmentosa 75, MIM# 617023 Tags
Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sengers syndrome, MIM#212350 Cataract 38 MIM#614691 Tags
Green List (high evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IIIa and IIIb, MIM#232400 Tags
Green List (high evidence)	AGMO	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, AGMO-related Tags
Green List (high evidence)	AGO1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Tags
Green List (high evidence)	AGO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lessel-Kreienkamp syndrome (LESKRES), MIM#619149 Intellectual disability Tags
Green List (high evidence)	AGPAT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 1 MIM#608594 Tags SV/CNV
Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121 Tags
Green List (high evidence)	AGR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233 Tags
Green List (high evidence)	AGRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120 Tags clinical trial treatable
Green List (high evidence)	AGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green List (high evidence)	AGTPBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Tags
Green List (high evidence)	AGTR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green List (high evidence)	AGXT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823 Tags clinical trial treatable
Green List (high evidence)	AHCY	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 Tags treatable
Green List (high evidence)	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xia-Gibbs syndrome, MIM# 615829 AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358 Tags
Green List (high evidence)	AHI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3, MIM#608629 Tags
Green List (high evidence)	AICDA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency with hyper-IgM, type 2, MIM# 605258 Tags
Green List (high evidence)	AIFM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Deafness, X-linked 5, 300614 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Green List (high evidence)	AIMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 3, MIM# 260600 Tags
Green List (high evidence)	AIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary adenoma predisposition MIM#102200 Tags
Green List (high evidence)	AIPL1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 Tags
Green List (high evidence)	AIRE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags
Green List (high evidence)	AJAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Green List (high evidence)	AK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631 Tags
Green List (high evidence)	AK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags treatable
Green List (high evidence)	AKR1D1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 2, MIM# 235555 Tags treatable
Green List (high evidence)	AKT1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cowden syndrome 6, MIM#615109 Proteus syndrome, MIM#176920 Tags somatic
Green List (high evidence)	AKT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 Diabetes mellitus, type II , MIM#125853 Tags
Green List (high evidence)	AKT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937 Tags
Green List (high evidence)	AL117258.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy MONDO:0018677, congenital heart defects Tags new gene name
Green List (high evidence)	ALAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Porphyria, acute hepatic , MIM#612740 Tags
Green List (high evidence)	ALAS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, 1, MIM# 300751 Protoporphyria, erythropoietic, X-linked, MIM# 300752 Tags
Green List (high evidence)	ALB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial dysalbuminaemic hyperthyroxinaemia [Dysalbuminemic hyperthyroxinemia], 615999 Analbuminemia, MIM# 616000 Tags
Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIIA MIM#219150 Spastic paraplegia 9A, autosomal dominant MIM#601162 Spastic paraplegia 9B, autosomal recessive MIM#616586 Cutis laxa, autosomal dominant 3 MIM#616603 disorders of ornithine or proline metabolism Tags
Green List (high evidence)	ALDH1A2	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025 Tags
Green List (high evidence)	ALDH1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 8, MIM# 615113 Tags
Green List (high evidence)	ALDH3A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Sjogren-Larsson syndrome MIM#270200 spasticity ichthyosis intellectual disability Tags
Green List (high evidence)	ALDH4A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hyperprolinemia, type II MIM#239510 disorders of ornithine or proline metabolism Tags
Green List (high evidence)	ALDH5A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green List (high evidence)	ALDH6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105 disorder of valine and pyrimidine metabolism Tags
Green List (high evidence)	ALDH7A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green List (high evidence)	ALDOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XII , MIM#611881 Tags
Green List (high evidence)	ALDOB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fructose intolerance, hereditary, 229600 Tags treatable
Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green List (high evidence)	ALG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ig, MIM# 607143 Tags
Green List (high evidence)	ALG13	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green List (high evidence)	ALG14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation Tags
Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green List (high evidence)	ALG5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polycystic kidney disease 7, MIM# 620056 Tags
Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green List (high evidence)	ALG8	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Polycystic liver disease 3 with or without kidney cysts, MIM# 617874 Tags
Green List (high evidence)	ALG9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Polycystic kidney disease ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000 Tags
Green List (high evidence)	ALK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Neuroblastoma, susceptibility to, 3} 613014 Spastic-dystonic diplegia Tags
Green List (high evidence)	ALKBH8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 71, MIM#618504 Tags
Green List (high evidence)	ALMS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alstrom syndrome MIM#203800 Tags
Green List (high evidence)	ALOX12B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 Tags
Green List (high evidence)	ALOXE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 3, MIM#606545 Tags
Green List (high evidence)	ALPK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Tags
Green List (high evidence)	ALPK3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Tags
Green List (high evidence)	ALPL	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags treatable
Green List (high evidence)	ALS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile onset ascending spastic paralysis (MIM#607225) Juvenile amyotrophic lateral sclerosis 2 (MIM#205100) Juvenile primary lateral sclerosis (MIM#606353) Tags
Green List (high evidence)	ALX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Frontonasal dysplasia 3, MIM#613456 Tags
Green List (high evidence)	ALX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Frontonasal dysplasia 1, MIM#136760 Tags
Green List (high evidence)	ALX4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Frontonasal dysplasia 2 MIM# 613451 Parietal foramina 2 MIM# 609597 {Craniosynostosis 5, susceptibility to} MIM#615529 Tags
Green List (high evidence)	AMACR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green List (high evidence)	AMBN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IF MIM#616270 Tags
Green List (high evidence)	AMBRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related Tags
Green List (high evidence)	AMELX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type 1E, MIM# 301200 Tags SV/CNV
Green List (high evidence)	AMER1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373 Tags
Green List (high evidence)	AMFR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 89, autosomal recessive, MIM# 620379 Tags
Green List (high evidence)	AMH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Persistent Mullerian duct syndrome, type I (MIM#261550) Tags founder
Green List (high evidence)	AMHR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Persistent Mullerian duct syndrome, type II MIM#261550 Tags
Green List (high evidence)	AMMECR1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Tags
Green List (high evidence)	AMN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Imerslund-Grasbeck syndrome 2, MIM# 618882 Tags
Green List (high evidence)	AMOTL1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related Tags
Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green List (high evidence)	AMT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green List (high evidence)	ANAPC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rothmund Thomson syndrome type 1, OMIM 618625 Tags deep intronic founder
Green List (high evidence)	ANGPT2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation-10, MIM#619369 Primary lymphoedema Hydrops Tags
Green List (high evidence)	ANGPTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypobetalipoproteinemia, familial, 2 MIM#605019 Tags
Green List (high evidence)	ANGPTL6	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral aneurysm Tags
Green List (high evidence)	ANK1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spherocytosis, type 1 MIM#182900 Tags
Green List (high evidence)	ANK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Long QT syndrome 4, MIM# 600919 Complex neurodevelopmental disorder, MONDO:0100038 Tags
Green List (high evidence)	ANK3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive, 37 615493 Intellectual disability, autosomal dominant coloboma MONDO#0001476, ANK3-related Tags
Green List (high evidence)	ANKH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrocalcinosis 2 MIM#118600 Craniometaphyseal dysplasia MIM#123000 Tags
Green List (high evidence)	ANKLE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 16, primary, autosomal recessive, MIM# 616681 Tags
Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes KBG syndrome, MIM # 148050 Tags
Green List (high evidence)	ANKRD17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chopra-Amiel-Gordan syndrome, MIM# 619504 Intellectual disability dysmorphic features Tags
Green List (high evidence)	ANKRD26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopaenia 2, MIM# 188000 Tags 5'UTR
Green List (high evidence)	ANKRD31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure, MONDO:0019852, ANKRD31-related Tags
Green List (high evidence)	ANKS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 16, MIM# 615382 MONDO:0014158 Tags
Green List (high evidence)	ANO10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 10, MIM#613728 Tags
Green List (high evidence)	ANO3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 24, MIM#615034 familial form of cranio-cervical dystonia Tags
Green List (high evidence)	ANO4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, ANO4-related Tags
Green List (high evidence)	ANO5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gnathodiaphyseal dysplasia MIM#166260 Miyoshi muscular dystrophy 3 MIM#613319 Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307 Tags
Green List (high evidence)	ANO6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Scott syndrome, MIM# 262890 MONDO:0009885 Tags
Green List (high evidence)	ANOS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 Tags
Green List (high evidence)	ANTXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GAPO syndrome, MIM# 230740 Tags
Green List (high evidence)	ANTXR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229 Tags
Green List (high evidence)	AP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150 Tags
Green List (high evidence)	AP1G1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467 Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548 Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green List (high evidence)	AP1S1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEDNIK syndrome 609313 non-syndromic congenital intestinal failure Tags
Green List (high evidence)	AP1S2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green List (high evidence)	AP2M1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder 60 with seizures, MIM# 618587 Tags
Green List (high evidence)	AP2S1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypocalciuric hypercalcaemia, type III, MIM# 600740 MONDO:0010926 Developmental disorder Tags
Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags clinical trial treatable
Green List (high evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 48, MIM# 617276 Tags
Green List (high evidence)	AP3D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hermansky-Pudlak syndrome 10, MIM# 617050 Oculocutaneous albinism Severe neutropaenia Recurrent infections Seizures Hearing loss Neurodevelopmental delay Tags
Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 Tags
Green List (high evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Green List (high evidence)	AP4S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 52, autosomal recessive, MIM# 614067 Tags
Green List (high evidence)	AP5Z1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 MONDO:0013342 Tags
Green List (high evidence)	APC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Tags
Green List (high evidence)	APCDD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotrichosis 1, MIM#605389 Tags
Green List (high evidence)	APOA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, hereditary systemic 3, MIM# 620657 Amyloidosis, 3 or more types MIM#105200 Hypoalphalipoproteinemia, primary, 2 MIM#618463 Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836 Tags
Green List (high evidence)	APOA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary amyloidosis, MONDO:0018634, APOA4-related Tags
Green List (high evidence)	APOA5	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperchylomicronemia, late-onset MIM#144650 {Hypertriglyceridemia, susceptibility to} MIM#145750 Tags
Green List (high evidence)	APOC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperlipoproteinemia, type Ib MIM#207750 Tags
Green List (high evidence)	APOPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Green List (high evidence)	APRT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adenine phosphoribosyltransferase deficiency MIM#614723 Tags treatable
Green List (high evidence)	APTX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Tags
Green List (high evidence)	AQP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes insipidus, nephrogenic, MIM#125800 Tags clinical trial treatable
Green List (high evidence)	AQP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar keratoderma, Bothnian type MIM#600231 Tags
Green List (high evidence)	AR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypospadias 1, X-linked MIM#30063 Androgen insensitivity MIM#300068 Androgen insensitivity, partial, with or without breast cancer MIM#312300 Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags
Green List (high evidence)	ARCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Tags
Green List (high evidence)	ARF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Periventricular nodular heterotopia 8, MIM# 618185 Tags
Green List (high evidence)	ARF3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ARF3-related Tags
Green List (high evidence)	ARFGEF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Tags
Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Periventricular heterotopia with microcephaly (MIM#608097) Tags
Green List (high evidence)	ARFGEF3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia, MONDO:0044807, ARFGEF3-related Tags
Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Argininaemia MIM#207800 Urea cycle disorders and inherited hyperammonaemias disorder of arginine metabolism Tags treatable
Green List (high evidence)	ARHGAP29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Clefting disorder, MONDO:0000358, ARHGAP29-related Tags
Green List (high evidence)	ARHGAP31	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 1, MIM#100300 Tags
Green List (high evidence)	ARHGAP35	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 Developmental defect of the eye (MONDO:0020145), ARHGAP35-related Tags
Green List (high evidence)	ARHGDIA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 8 MIM#615244 Tags
Green List (high evidence)	ARHGEF18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 78 MIM#617433 Tags
Green List (high evidence)	ARHGEF9	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 8, MIM# 300607 Tags
Green List (high evidence)	ARID1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 2 (MIM#614607) Tags
Green List (high evidence)	ARID1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 1 MIM#135900 Tags
Green List (high evidence)	ARID2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 6, MIM#617808 Tags
Green List (high evidence)	ARIH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related Tags
Green List (high evidence)	ARL13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green List (high evidence)	ARL2BP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa with or without situs inversus MIM#615434 Tags
Green List (high evidence)	ARL3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 35 MIM#618161 Retinitis pigmentosa 83 MIM#618173 Tags
Green List (high evidence)	ARL6	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Retinitis pigmentosa 55, MIM# 613575 Tags
Green List (high evidence)	ARL6IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 61, autosomal recessive MIM#615685 Tags
Green List (high evidence)	ARMC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 23, MIM# 615451 Tags new gene name
Green List (high evidence)	ARMC9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 30, MIM#617622 Tags
Green List (high evidence)	ARPC1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718 Tags treatable
Green List (high evidence)	ARPC4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, language impairment, and ocular abnormalities, MIM# 620141 Tags
Green List (high evidence)	ARPC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Tags
Green List (high evidence)	ARR3	1 review 1 green	Other	Sources Expert Review Green Literature Phenotypes Myopia 26, X-linked, female-limited MIM#301010 Tags
Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metachromatic leukodystrophy, MIM#250100 Tags clinical trial treatable
Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags clinical trial treatable
Green List (high evidence)	ARSE	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags new gene name
Green List (high evidence)	ARSG	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Usher syndrome, type IV, MIM# 618144 Tags founder
Green List (high evidence)	ARSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucopolysaccharidosis MONDO:0019249, ARSK-related Tags
Green List (high evidence)	ARV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 MIM#61720 Dilated cardiomyopathy Tags
Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 1 MIM#308350 Hydranencephaly with abnormal genitalia MIM#300215 Lissencephaly, X-linked 2 MIM#300215 Mental retardation, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Proud syndrome MIM#300004 Tags
Green List (high evidence)	ASAH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950 Farber lipogranulomatosis, MIM# 228000 Tags
Green List (high evidence)	ASCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with congenital bone fractures 2, MIM#616867 Tags
Green List (high evidence)	ASCC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Tags
Green List (high evidence)	ASH1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 52, MIM#617796 Tags
Green List (high evidence)	ASL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green List (high evidence)	ASNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Asparagine synthetase deficiency, MIM#615574 Tags
Green List (high evidence)	ASPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green List (high evidence)	ASPH	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Traboulsi syndrome , MIM#601552 Exertional heat illness malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Tags
Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 5, primary, autosomal recessive, MIM#608716 Tags
Green List (high evidence)	ASPRV1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ichthyosis, lamellar, autosomal dominant, MIM# 146750 palmoplantar keratoderma lamellar ichthyosis Tags
Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Citrullinemia MIM#215700 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green List (high evidence)	ASTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral malformation, MONDO:0016054, ASTN1-related Tags
Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome , MIM#605039 Tags
Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shashi-Pena syndrome, MIM# 617190 Tags
Green List (high evidence)	ASXL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485) Tags
Green List (high evidence)	ATAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperekplexia 4, MIM#618011 Tags
Green List (high evidence)	ATAD3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 Tags SV/CNV
Green List (high evidence)	ATCAY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia, cerebellar, Cayman type, MIM# 601238 MONDO:0011025 Tags
Green List (high evidence)	ATF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achromatopsia 7, MIM#616517 Tags
Green List (high evidence)	ATG4D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ATG4D-related Tags
Green List (high evidence)	ATG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green List (high evidence)	ATIC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes AICA-ribosiduria due to ATIC deficiency, MIM# 608688 Tags
Green List (high evidence)	ATL1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory, type ID , MIM#613708 MONDO:0013381 Spastic paraplegia 3A, MIM 182600 Hereditary spastic paraplegia, AR Tags
Green List (high evidence)	ATL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory, type IF, MIM# 615632 Tags
Green List (high evidence)	ATM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia, MIM# 208900 Tags
Green List (high evidence)	ATN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Tags
Green List (high evidence)	ATOH7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900 microphthalmia cataract glaucoma congenital retinal nonattachment Tags
Green List (high evidence)	ATP11A	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851Deafness, autosomal dominant 84 MIM#619810 Tags
Green List (high evidence)	ATP13A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Primary pulmonary hypertension 5, MIM#265400 Tags
Green List (high evidence)	ATP1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD MIM#618036 Hypomagnesemia, seizures, and mental retardation 2 MIM#618314 Tags
Green List (high evidence)	ATP1A2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 1, MIM#104290 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602 Developmental and epileptic encephalopathy 98, MIM# 619605 Tags
Green List (high evidence)	ATP1A3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 2, MIM# 614820 CAPOS syndrome, MIM# 601338 Dystonia-12, MIM# 128235 Polymicrogyria Tags
Green List (high evidence)	ATP2A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brody myopathy, OMIM # 601003 Tags
Green List (high evidence)	ATP2A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrokeratosis verruciformis MIM#101900 Darier disease MIM#124200 Tags
Green List (high evidence)	ATP2B1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Tags
Green List (high evidence)	ATP2B2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 82, MIM# 619804 Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green List (high evidence)	ATP2C1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hailey-Hailey disease (MIM#169600) Tags
Green List (high evidence)	ATP5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120 Tags new gene name
Green List (high evidence)	ATP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags new gene name
Green List (high evidence)	ATP5G3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia, early-onset, and/or spastic paraplegia, MIM#619681 Tags new gene name
Green List (high evidence)	ATP5O	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags
Green List (high evidence)	ATP6AP1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 47, MIM#300972 Hepatopathy Leukopaenia Low copper Intellectual disability in some Tags
Green List (high evidence)	ATP6AP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Parkinsonism with spasticity, X-linked MIM#300911 Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Tags
Green List (high evidence)	ATP6V0A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Green List (high evidence)	ATP6V0A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, distal, autosomal recessive, MIM#602722 Tags treatable
Green List (high evidence)	ATP6V0C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green List (high evidence)	ATP6V1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IID MIM#617403 Developmental and epileptic encephalopathy 93 MIM#618012 Tags
Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags treatable
Green List (high evidence)	ATP6V1B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455 Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480 Epileptic encephalopathy Tags
Green List (high evidence)	ATP6V1E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIC MIM#617402 Tags
Green List (high evidence)	ATP7A	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Menkes disease MIM#309400 Occipital horn syndrome MIM#304150 Spinal muscular atrophy, distal, X-linked 3, MIM# 300489 Tags treatable
Green List (high evidence)	ATP8A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Tags
Green List (high evidence)	ATP8B1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 1, MIM# 211600 Cholestasis, benign recurrent intrahepatic, MIM# 243300 Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480 Tags
Green List (high evidence)	ATP9A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Tags
Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seckel syndrome 1, MIM# 210600 Tags
Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green List (high evidence)	ATXN7L3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related Tags
Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Green List (high evidence)	AURKC	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 5 MIM #243060 Tags
Green List (high evidence)	AUTS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Green List (high evidence)	AVP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes insipidus, neurohypophyseal MIM#125700 Tags clinical trial treatable
Green List (high evidence)	AVPR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes insipidus, nephrogenic 304800 Nephrogenic syndrome of inappropriate antidiuresis 300539 Tags clinical trial treatable
Green List (high evidence)	AXIN1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Tags
Green List (high evidence)	AXIN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oligodontia-colorectal cancer syndrome, MIM# 608615 Tags
Green List (high evidence)	B2M	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 43 MIM# 241600 Sinopulmonary infections Purple-red skin lesions Decreased serum IgG Decreased B cells Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c MONDO:0009434 Amyloidosis, familial visceral, MIM# 105200 Tags
Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 Tags
Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600 Tags
Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peters-plus syndrome, MIM#261540 Tags
Green List (high evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 26, autosomal recessive (MIM #609195) Tags
Green List (high evidence)	B4GALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iid, MIM#607091 Tags
Green List (high evidence)	B4GALT7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags founder
Green List (high evidence)	B4GAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Tags
Green List (high evidence)	B9D1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 27, MIM#617120 Meckel syndrome 9, MIM#614209 Tags
Green List (high evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175 Tags
Green List (high evidence)	BAAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Bile acid conjugation defect 1, MIM# 619232 Tags
Green List (high evidence)	BACH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 60 and autoimmunity, MIM# 618394 Tags
Green List (high evidence)	BAG3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1HH, MIM# 613881 Myopathy, myofibrillar, 6, MIM# 612954 Tags
Green List (high evidence)	BAG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2F, MIM# 619747 Tags
Green List (high evidence)	BAZ2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism Tags
Green List (high evidence)	BBS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green List (high evidence)	BBS10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, MIM# 615987 Tags
Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989 Tags
Green List (high evidence)	BBS2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981 Retinitis pigmentosa 74, MIM# 616562 Tags
Green List (high evidence)	BBS4	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green List (high evidence)	BBS5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green List (high evidence)	BBS7	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green List (high evidence)	BBS9	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green List (high evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green List (high evidence)	BCAS3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green List (high evidence)	BCAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypervalinemia or hyperleucine-isoleucinemia MIM#618850 disorder of branched-chain amino acid metabolism Tags
Green List (high evidence)	BCHE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Butyrylcholinesterase deficiency, MIM# 617936 Tags
Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ia, MIM# 248600 Tags treatable
Green List (high evidence)	BCKDHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ib, MIM# 248600 Tags treatable
Green List (high evidence)	BCKDK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923 disorder of branched-chain amino acid metabolism Tags
Green List (high evidence)	BCL10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 37, MIM# 616098 Tags
Green List (high evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Green List (high evidence)	BCL11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092 Tags
Green List (high evidence)	BCOR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia Tags
Green List (high evidence)	BCS1L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Bjornstad syndrome MIM#262000 GRACILE syndrome, MIM#603358 Mitochondrial complex III deficiency, nuclear type MIM#112400 Tags
Green List (high evidence)	BEST1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bestrophinopathy, autosomal recessive, MIM# 611809 Macular dystrophy, vitelliform, 2 MIM# 153700 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM# 193220 Retinitis pigmentosa-50, MIM# 613194 Retinitis pigmentosa, concentric, MIM# 61319 Vitreoretinochoroidopathy,MIM# 193220 Tags
Green List (high evidence)	BFSP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 33, multiple types, MIM# 611391 Tags
Green List (high evidence)	BFSP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 12, multiple types, MIM# 611597 Tags
Green List (high evidence)	BHLHA9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432 Tags
Green List (high evidence)	BHLHE22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related Tags
Green List (high evidence)	BICD2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder (MONDO#0700092), BICD2-related Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290 MONDO:0014121 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 Tags
Green List (high evidence)	BICRA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome-12, MIM#619325 Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features Tags
Green List (high evidence)	BIN1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Centronuclear myopathy 2, MIM# 255200 Tags
Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bloom Syndrome MIM# 210900 Short stature, dysmorphic facies sun-sensitive immunoglobulin deficiency (IgA, IgG, IgM) erythema marrow failure leukaemia lymphoma chromosomal instability predisposition to malignancies Tags
Green List (high evidence)	BLNK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 4, MIM# 613502 Tags treatable
Green List (high evidence)	BLOC1S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related Tags
Green List (high evidence)	BLOC1S3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 8, MIM# 614077 MONDO:0013560 Tags
Green List (high evidence)	BLOC1S5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hermansky–Pudlak syndrome 11, MIM#619172 Tags
Green List (high evidence)	BLOC1S6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 9, MIM# 614171 Tags
Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIII , MIM#614856 Tags
Green List (high evidence)	BMP15	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ovarian dysgenesis 2, MIM# 300510 Premature ovarian failure 4, MIM# 300510 Tags
Green List (high evidence)	BMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877 Tags
Green List (high evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofacial cleft 11 600625 Microphthalmia, syndromic 6, MIM# 607932 Tags
Green List (high evidence)	BMP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Iron overload, susceptibility to} 620121 Tags
Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Diaphanospondylodysostosis, MIM#608022 Tags
Green List (high evidence)	BMPR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyposis, juvenile intestinal, MIM# 174900 Tags
Green List (high evidence)	BMPR1B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acromesomelic dysplasia, Demirhan type, MIM# 609441 Brachydactyly, type A1, D, MIM# 616849 Brachydactyly, type A2, MIM# 112600 coloboma MONDO#0001476, BMPR1B-related Tags
Green List (high evidence)	BMPR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary venoocclusive disease 1 MIM#265450 Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Tags
Green List (high evidence)	BNC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure 16 MIM#618723 Tags
Green List (high evidence)	BNC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lower urinary tract obstruction, congenital OMIM #618612 Tags
Green List (high evidence)	BOLA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Tags
Green List (high evidence)	BORCS8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Tags
Green List (high evidence)	BPTF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Tags
Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 7, MIM# 613706 Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498 Tags
Green List (high evidence)	BRD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 6, MIM# 620568 Tags
Green List (high evidence)	BRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellofaciodental syndrome, MIM# 616202 Tags
Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Green List (high evidence)	BRPF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 MONDO:0015022 Tags
Green List (high evidence)	BRSK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism Tags
Green List (high evidence)	BRWD3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 93, MIM # 300659 Tags
Green List (high evidence)	BSCL2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, distal hereditary motor, type VC, MIM# 619112 Encephalopathy, progressive, with or without lipodystrophy, MIM#615924 Lipodystrophy, congenital generalized, type 2, MIM# 269700 Silver spastic paraplegia syndrome, MIM# 270685 Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062 Tags
Green List (high evidence)	BSN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy MONDO:0005027 Tags
Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 4a, MIM#602522 Tags
Green List (high evidence)	BTD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Biotinidase deficiency, MIM 253260 Tags treatable
Green List (high evidence)	BTG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zygotic cleavage failure (ZCF) Oocyte maturation defect, MIM#619009 Tags
Green List (high evidence)	BTK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia, X-linked 1, MIM# 300755 Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Tags treatable
Green List (high evidence)	BUB1B	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Premature ovarian failure Tags
Green List (high evidence)	BVES	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812 Tags
Green List (high evidence)	C10orf71	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes dilated cardiomyopathy MONDO:0005021 Tags
Green List (high evidence)	C11orf70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 38, MIM# 618063 Tags new gene name
Green List (high evidence)	C12orf4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 66 MIM#618221 Tags
Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Temtamy syndrome MIM#218340 Tags
Green List (high evidence)	C12orf65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 Combined oxidative phosphorylation deficiency 7, MIM# 613559 Tags new gene name
Green List (high evidence)	C12orf66	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags new gene name
Green List (high evidence)	C14orf39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 52, MIM# 619202 Premature ovarian failure 18 619203 Tags
Green List (high evidence)	C15orf41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type Ib, MIM# 615631 Tags
Green List (high evidence)	C16orf62	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Tags new gene name
Green List (high evidence)	C17orf53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ovarian dysgenesis 11, MIM# 620897 Tags
Green List (high evidence)	C17orf62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chronic granulomatous disease 5, autosomal recessive, MIM# 618935 Tags new gene name
Green List (high evidence)	C19orf12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 4, MIM# 614298 Spastic paraplegia 43, autosomal recessive, MIM# 615043 Tags
Green List (high evidence)	C19orf70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 37, MIM# 618329 Tags
Green List (high evidence)	C1GALT1C1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tn polyagglutination syndrome, somatic MIM#300622 atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related Tags somatic
Green List (high evidence)	C1orf127	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, visceral, MONDO:0018677, CIROZ-related Tags new gene name
Green List (high evidence)	C1QA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C1q deficiency, MIM# 613652 Tags
Green List (high evidence)	C1QB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C1q deficiency, MIM# 613652 Tags
Green List (high evidence)	C1QBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 33, MIM# 617713 Tags
Green List (high evidence)	C1QC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C1q deficiency MIM#613652 Tags
Green List (high evidence)	C1QTNF5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinal degeneration, late-onset, autosomal dominant MIM#605670 Tags
Green List (high evidence)	C1R	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080 Current Edit Tags
Green List (high evidence)	C1S	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174 C1s deficiency MIM#613783 Tags
Green List (high evidence)	C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C2 deficiency MIM#217000 Tags
Green List (high evidence)	C21orf2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271 Retinal dystrophy with macular staphyloma, MIM# 617547 Tags new gene name
Green List (high evidence)	C21orf59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 26, MIM# 615500 Tags founder new gene name
Green List (high evidence)	C2CD3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XIV, MIM# 615948 MONDO:0014413 Tags
Green List (high evidence)	C2orf69	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green List (high evidence)	C2orf71	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 54, MIM# 613428 Tags new gene name
Green List (high evidence)	C3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C3 deficiency MIM#613779 C3 deficiency MIM#613779 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925 Tags
Green List (high evidence)	C4orf26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IIA4, MIM# 614832 Tags
Green List (high evidence)	C5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C5 deficiency MIM#609536 Tags
Green List (high evidence)	C5orf42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 17, MIM# 614615 Orofaciodigital syndrome VI, MIM# 277170 Tags new gene name
Green List (high evidence)	C6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C6 deficiency MIM#612446 Tags treatable
Green List (high evidence)	C7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C7 deficiency MIM#610102 Tags
Green List (high evidence)	C8B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C8 deficiency, type II MIM#613789 Tags
Green List (high evidence)	C8orf37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 21, MIM#617406 Retinitis pigmentosa 64, MIM#614500 Tags
Green List (high evidence)	C9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C9 deficiency MIM#613825 Tags
Green List (high evidence)	C9orf3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 31, MIM# 619565 Tags
Green List (high evidence)	C9orf84	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 75, MIM# 619949 Tags new gene name
Green List (high evidence)	CA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperchlorhidrosis, isolated MIM#143860 Tags
Green List (high evidence)	CA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags treatable
Green List (high evidence)	CA5A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 Tags SV/CNV treatable
Green List (high evidence)	CA8	1 review 1 green	Unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CABP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 93, MIM# 614899 Tags
Green List (high evidence)	CABP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427 Tags
Green List (high evidence)	CACHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes syndromic complex neurodevelopmental disorder MONDO:0800439 Tags
Green List (high evidence)	CACNA1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 2 MIM#108500 Tags
Green List (high evidence)	CACNA1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 Tags
Green List (high evidence)	CACNA1D	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 MONDO:0014200 Sinoatrial node dysfunction and deafness, MIM# 614896 Tags
Green List (high evidence)	CACNA1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green List (high evidence)	CACNA1F	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aland Island eye disease MIM#300600 Cone-rod dystrophy, X-linked, 3 MIM#300476 Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071 Tags SV/CNV
Green List (high evidence)	CACNA1G	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green List (high evidence)	CACNA1H	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperaldosteronism, familial, type IV MIM#617027 MONDO:0014875 Tags
Green List (high evidence)	CACNA1I	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Tags
Green List (high evidence)	CACNA2D1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 110, MIM# 620149 Tags
Green List (high evidence)	CACNA2D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green List (high evidence)	CACNA2D4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinal cone dystrophy 4 MIM#610478 Tags
Green List (high evidence)	CAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 50, MIM# 616457 Tags
Green List (high evidence)	CADM3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519 Tags
Green List (high evidence)	CALM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 14 MIM#616247 Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916 Tags
Green List (high evidence)	CALM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 15 MIM#616249 CPVT Tags
Green List (high evidence)	CALM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 16 MIM#618782 CPVT Tags
Green List (high evidence)	CAMK2A	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798 Tags
Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 54, MIM# 617799 Tags
Green List (high evidence)	CAMK2D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Green List (high evidence)	CAMK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags
Green List (high evidence)	CAMSAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Tags
Green List (high evidence)	CAMTA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD) Tags SV/CNV
Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desbuquois dysplasia 1 MIM#251450 Epiphyseal dysplasia, multiple, 7, MIM# 617719 Tags
Green List (high evidence)	CANVAS STR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags
Green List (high evidence)	CANVAS_ACAGG STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags
Green List (high evidence)	CAP2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2I (MIM#620462) Tags
Green List (high evidence)	CAPN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 76, autosomal recessive, MIM#616907 MONDO:0014827 Tags
Green List (high evidence)	CAPN15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 microphthalmia HP:0000568 coloboma HP:0000589 Tags
Green List (high evidence)	CAPN3	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129 Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Tags
Green List (high evidence)	CAPN5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vitreoretinopathy, neovascular inflammatory, MIM# 193235 Tags
Green List (high evidence)	CAPRIN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782 Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Tags
Green List (high evidence)	CAPZA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related Tags
Green List (high evidence)	CARD11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 11A, autosomal recessive, MIM# 615206 Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 Tags
Green List (high evidence)	CARD14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pityriasis rubra pilaris (MIM#173200) Tags
Green List (high evidence)	CARD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 2, autosomal recessive, MIM# 212050 Predisposition to invasive fungal disease, MONDO:0008905 Tags
Green List (high evidence)	CARMIL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 58, MIM# 618131 Early onset paediatric inflammatory bowel disease Tags
Green List (high evidence)	CARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability microcephaly brittle hair and nails Tags
Green List (high evidence)	CARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 27, MIM# 616672 MONDO:0014728 Tags
Green List (high evidence)	CASK	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Mental retardation, with or without nystagmus MIM#300422 Tags
Green List (high evidence)	CASP10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type II MIM#603909 Tags
Green List (high evidence)	CASP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653 Tags
Green List (high evidence)	CASQ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Tags founder
Green List (high evidence)	CASR	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism, neonatal MIM#239200 Hypocalcemia, autosomal dominant MIM#601198 Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198 hypercalcemia, type I MIM#145980 Tags
Green List (high evidence)	CAST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295) Tags
Green List (high evidence)	CASZ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Dilated cardiomyopathy, MONDO:0005021, CASZ1-related left ventricular non compaction Tags
Green List (high evidence)	CAT	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acatalasemia MIM#614097 hypocatalasemia Tags
Green List (high evidence)	CATSPER1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 7 MIM#612997 Tags
Green List (high evidence)	CAV1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721 Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526 Tags
Green List (high evidence)	CAV3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, distal, Tateyama type MIM#614321 Rippling muscle disease 2 MIM#606072 Creatine phosphokinase, elevated serum MIM#123320 Tags
Green List (high evidence)	CAVIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 MONDO:0013225 Tags treatable
Green List (high evidence)	CBFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes cleidocranial dysplasia (MONDO#0007340), CBFB-related Tags
Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 Tags
Green List (high evidence)	CBLB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 Tags
Green List (high evidence)	CBS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200 Thrombosis, hyperhomocysteinemic, 236200 Tags treatable
Green List (high evidence)	CBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), CBX1-related Tags
Green List (high evidence)	CBY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome, MONDO:0018772, CBY1-related Tags
Green List (high evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443 Tags
Green List (high evidence)	CC2D2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM# 612285 Meckel syndrome 6, MIM# 612284 COACH syndrome 2, MIM# 619111 Tags
Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia Tags
Green List (high evidence)	CCDC103	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 17, MIM# 614679 Tags founder
Green List (high evidence)	CCDC114	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 20, MIM# 615067 Tags new gene name
Green List (high evidence)	CCDC115	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIo (MIM# 616828) Tags
Green List (high evidence)	CCDC134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type XXII, MIM#619795 Tags
Green List (high evidence)	CCDC151	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 30, MIM# 616037 Tags new gene name
Green List (high evidence)	CCDC155	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Non-obstructive azoospermia Premature ovarian insufficiency Infertility disorder, MONDO:0005047, CCDC155-related Tags new gene name
Green List (high evidence)	CCDC22	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963 Tags
Green List (high evidence)	CCDC32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123 Craniofacial, cardiac, laterality and neurodevelopmental anomalies Tags
Green List (high evidence)	CCDC34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spermatogenic failure 76, MIM# 620084 Tags
Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 14, MIM# 613807 Tags
Green List (high evidence)	CCDC40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808 Tags
Green List (high evidence)	CCDC47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Trichohepatoneurodevelopmental syndrome, 618268 Tags
Green List (high evidence)	CCDC65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 27, MIM# 615504 Tags founder
Green List (high evidence)	CCDC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-M syndrome 3, MIM#614205 Tags
Green List (high evidence)	CCDC82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CCDC82-related Tags
Green List (high evidence)	CCDC88A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PEHO syndrome-like, MIM# 617507 Tags
Green List (high evidence)	CCDC88C	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 40, MIM#616053 Hydrocephalus, nonsyndromic, autosomal recessive 236600 Early-onset pure hereditary spastic paraplegia Tags
Green List (high evidence)	CCIN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 91, MIM# 620838 Tags
Green List (high evidence)	CCM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral cavernous malformations-2 MIM#603284 Tags
Green List (high evidence)	CCND2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, CCND2-related MONDO: 0700092 Microcephaly, MONDO: 0001149 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938 Tags
Green List (high evidence)	CCNO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 29, MIM# 615872 Tags
Green List (high evidence)	CCR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {HIV infection, susceptibility/resistance to} Polycystic lung disease MIM#219600 Tags
Green List (high evidence)	CCR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hepatitis C virus, resistance to} 609532 {HIV infection, susceptibility/resistance to} {West nile virus, susceptibility to}MIM# 610379 Tags
Green List (high evidence)	CCT3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034 Tags
Green List (high evidence)	CCT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, CCT6A-related Tags
Green List (high evidence)	CD151	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Green List (high evidence)	CD164	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 66, MIM# 616969 Tags
Green List (high evidence)	CD19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 3, MIM# 613493 Tags
Green List (high evidence)	CD247	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 25, MIM# 610163 Absent T cells Normal B cells Normal NK cells Tags
Green List (high evidence)	CD27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 2 CD27-deficiency MIM# 615122 hepatosplenomegaly reduced CD8+ T-cell function lymphadenopathy hepatosplenomegaly fever increased susceptibility to EBV infection aplastic anaemia Tags
Green List (high evidence)	CD2AP	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 Tags
Green List (high evidence)	CD36	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Platelet glycoprotein IV deficiency MIM#608404 {Malaria, cerebral, reduced risk of} MIM#611162 {Malaria, cerebral, susceptibility to} MIM#611162 Tags
Green List (high evidence)	CD3D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 19 MIM# 615617 Tags treatable
Green List (high evidence)	CD3E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 18 MIM# 615615 Tags treatable
Green List (high evidence)	CD3G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 17, CD3 gamma deficient MIM# 615607 immune deficiency autoimmunity failure to thrive recurrent gastrointestinal infections recurrent respiratory infections autoimmune haemolytic anaemia bronchiolitis obliterans low CD3 complex partial T lymphocytopenia intractable diarrhoea. Tags
Green List (high evidence)	CD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 79, MIM# 619238 Absence of CD4+ T cells exuberant, relapsing, treatment-refractory warts Tags
Green List (high evidence)	CD40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Tags treatable
Green List (high evidence)	CD40LG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 Severe opportunistic infections (recurrent), idiopathic neutropaenia dysgammaglobulinaemia hepatitis cholangitis cholangiocarcinoma autoimmune blood cytopenias haemolytic anaemia thrombocytopaenia diarrhoea peripheral neuroectodermal tumours Tags treatable
Green List (high evidence)	CD46	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922 Tags
Green List (high evidence)	CD55	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300 Tags
Green List (high evidence)	CD59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300 Tags
Green List (high evidence)	CD70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 3, MIM# 618261 Tags treatable
Green List (high evidence)	CD79A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 3 MIM#613501 Tags treatable
Green List (high evidence)	CD79B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 6, MIM#612692 Tags treatable
Green List (high evidence)	CD81	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 6, MIM# 613496 Tags
Green List (high evidence)	CDAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 Tags
Green List (high evidence)	CDC14A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 Tags
Green List (high evidence)	CDC23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes inherited oocyte maturation defect MONDO#0014769, CDC23-related Tags
Green List (high evidence)	CDC42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Takenouchi-Kosaki syndrome, MIM#616737 Tags
Green List (high evidence)	CDC42BPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Tags
Green List (high evidence)	CDC45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 7, MIM 617063 Tags
Green List (high evidence)	CDC73	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism-jaw tumour syndrome, MIM# 145001 Hyperparathyroidism, familial primary, MIM# 145000 Tags
Green List (high evidence)	CDCA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 MONDO:0014828 Tags
Green List (high evidence)	CDCA8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital hypothyroidism, thyroid dysgenesis, no OMIM # Tags
Green List (high evidence)	CDH11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Elsahy-Waters syndrome, MIM# 211380 Teebi hypertelorism syndrome Tags
Green List (high evidence)	CDH2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability corpus callosum abnormalities congenital abnormalities Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929 Attention deficit-hyperactivity disorder 8 , MIM# 619957 Tags
Green List (high evidence)	CDH23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1D (MIM# 601067) Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067) Tags
Green List (high evidence)	CDH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280 Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553 Tags
Green List (high evidence)	CDHR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 15 MIM#613660 Retinitis pigmentosa 65 MIM#613660 Tags SV/CNV
Green List (high evidence)	CDK10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Al Kaissi syndrome MIM#617694 Tags
Green List (high evidence)	CDK13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360 Tags
Green List (high evidence)	CDK16	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092) CDK16-related Tags
Green List (high evidence)	CDK19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability epileptic encephalopathy Epileptic encephalopathy, early infantile, 87, MIM# 618916 Tags
Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488 Tags
Green List (high evidence)	CDK8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphism congenital abnormalities seizures Tags
Green List (high evidence)	CDKL5	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 2, MIM 300672 Tags
Green List (high evidence)	CDKN1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Tags
Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650 IMAGe syndrome, MIM# 614732 Silver-Russell syndrome Tags
Green List (high evidence)	CDKN2A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Melanoma and neural system tumor syndrome} MIM#155755 {Melanoma, cutaneous malignant, 2} MIM#155601 {Melanoma-pancreatic cancer syndrome} MIM#606719 Tags
Green List (high evidence)	CDON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 11, MIM# 614226 MONDO:0013642 Tags
Green List (high evidence)	CDSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peeling skin syndrome 1 MIM#270300 ichthyosiform erythroderma Tags
Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 4, MIM# 613804 MONDO:0013431 Tags
Green List (high evidence)	CDX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005 Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs Tags
Green List (high evidence)	CEACAM16	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 4B, MIM# 614614 Deafness, autosomal recessive 113, MIM# 618410 Tags
Green List (high evidence)	CEBPA	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukaemia, acute myeloid, MIM#601626 Tags
Green List (high evidence)	CEBPE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Specific granule deficiency, MIM# 245480 Immunodeficiency 108 with autoinflammation, MIM# 260570 Tags
Green List (high evidence)	CELF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 97, MIM#619561 Tags
Green List (high evidence)	CELSR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 9, MIM# 619319 Tags
Green List (high evidence)	CELSR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Tags
Green List (high evidence)	CENPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stromme syndrome (MIM#243605) Tags
Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358 Tags
Green List (high evidence)	CEP104	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Neurodevelopmental disorder MONDO:0014770, CEP104-related Tags
Green List (high evidence)	CEP120	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Green List (high evidence)	CEP135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephalic primordial dwarfism Microcephaly 8, primary, autosomal recessive, 614673 Tags
Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green List (high evidence)	CEP164	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green List (high evidence)	CEP250	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy and hearing loss 2, MIM# 618358 Tags
Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 14, MIM# 615991 Joubert syndrome 5 610188 Leber congenital amaurosis 10, MIM# 611755 Meckel syndrome 4, MIM# 611134 Senior-Loken syndrome 6, MIM# 610189 Tags
Green List (high evidence)	CEP295	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seckel syndrome 11, OMIM # 620767 Tags
Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green List (high evidence)	CEP55	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 Tags
Green List (high evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 2, #MIM 614114 Tags
Green List (high evidence)	CEP76	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Joubert syndrome Bardet-Biedl syndrome retinitis pigmentosa Tags
Green List (high evidence)	CEP78	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy and hearing loss MIM#617236 Tags
Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green List (high evidence)	CEP85L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lissencephaly, posterior predominant Tags
Green List (high evidence)	CERKL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 26, MIM# 608380 Tags
Green List (high evidence)	CERS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 9, MIM# 615023 Tags
Green List (high evidence)	CFAP20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa (MONDO:0019200), CFAP20-related Tags
Green List (high evidence)	CFAP43	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydrocephalus, normal pressure, 1 236690 Spermatogenic failure 19 617592 Tags
Green List (high evidence)	CFAP45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608 Tags
Green List (high evidence)	CFAP47	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Spermatogenic failure, X-linked, 3, MIM# 301059 asthenoteratozoospermia morphological abnormalities of the flagella (MMAF) Tags
Green List (high evidence)	CFAP52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607 Tags
Green List (high evidence)	CFAP53	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779 Tags
Green List (high evidence)	CFAP57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 95, MIM# 620917 Van der Woude Syndrome Primary ciliary dyskinesia Tags
Green List (high evidence)	CFAP58	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spermatogenic failure 49, MIM#619144 Multiple morphological abnormalities of the sperm flagella (MMAF) Tags
Green List (high evidence)	CFAP65	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 40 618664 Tags
Green List (high evidence)	CFAP69	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Asthenoteratospermia (Impaired sperm motility severe flagellar abnormalities (short, coiled, absent or irregular calibre)) Tags
Green List (high evidence)	CFB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Complement factor B deficiency, MIM# 615561 {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924 Tags
Green List (high evidence)	CFC1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 2, autosomal 605376 Tags
Green List (high evidence)	CFD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Complement factor D deficiency MIM#613912 Tags
Green List (high evidence)	CFH	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal laminar drusen MIM#126700 Complement factor H deficiency MIM#609814 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400 Tags
Green List (high evidence)	CFHR1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 Tags
Green List (high evidence)	CFHR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Tags SV/CNV
Green List (high evidence)	CFHR3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 Tags
Green List (high evidence)	CFHR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephropathy due to CFHR5 deficiency, MIM#614809 Tags
Green List (high evidence)	CFI	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Complement factor I deficiency MIM#610984 {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923 Tags
Green List (high evidence)	CFL2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 7, autosomal recessive, MIM# 610687 Tags
Green List (high evidence)	CFP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Properdin deficiency, X-linked MIM#312060 Tags
Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cystic fibrosis, MIM# 219700 Congenital bilateral absence of vas deferens, MIM# 277180 Tags
Green List (high evidence)	CHAMP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 40 (MIM#616579) Tags
Green List (high evidence)	CHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myasthenics syndrome associated with episodic apnea Myasthenic syndrome, congenital, 6, presynaptic, 254210 Tags treatable
Green List (high evidence)	CHCHD10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 Spinal muscular atrophy, Jokela type 615048 Myopathy, isolated mitochondrial, autosomal dominant 616209 Tags founder
Green List (high evidence)	CHD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Green List (high evidence)	CHD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, childhood-onset (MIM # 615369) Tags
Green List (high evidence)	CHD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Snijders Blok-Campeau syndrome (618205) Tags
Green List (high evidence)	CHD4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sifrim-Hitz-Weiss syndrome, MIM 617159 Childhood idiopathic epilepsy and sinus arrhythmia Tags
Green List (high evidence)	CHD5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parenti-Mignot neurodevelopmental syndrome MIM#619873 Tags
Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370 CHARGE syndrome MIM#214800 Tags
Green List (high evidence)	CHD8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Autism, susceptibility to, 18} 615032 Neurodevelopmental disorder, MONDO:0700092, CHD8-associated Tags
Green List (high evidence)	CHKA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Tags
Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green List (high evidence)	CHM	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Choroideremia MIM#303100 Tags
Green List (high evidence)	CHMP1A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961 Tags
Green List (high evidence)	CHMP4B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 31, multiple types MIM#605387 Tags
Green List (high evidence)	CHN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Duane retraction syndrome 2,MIM#604356 Tags
Green List (high evidence)	CHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic ataxia 9, autosomal recessive, MIM #618438 Tags
Green List (high evidence)	CHRDL1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalocornea OMIM# 309300 Tags
Green List (high evidence)	CHRM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Prune belly syndrome, MIM# 100100 Tags
Green List (high evidence)	CHRNA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 Tags treatable
Green List (high evidence)	CHRNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, type 4 MIM#610353 Tags
Green List (high evidence)	CHRNA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800 Tags
Green List (high evidence)	CHRNA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Tags
Green List (high evidence)	CHRNB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Tags
Green List (high evidence)	CHRNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 3, MIM# 605375 Tags
Green List (high evidence)	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323 Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags treatable
Green List (high evidence)	CHRNE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Tags treatable
Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009926 MONDO:0009668 Tags
Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Tags
Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 Tags
Green List (high evidence)	CHST6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macular corneal dystrophy, MIM# 217800, MONDO:0009020 Tags
Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	CHUK	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, MONDO:0015131, CHUK-related Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339 Cocoon syndrome, MIM# 613630 AEC-like syndrome Tags
Green List (high evidence)	CIAO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Tags
Green List (high evidence)	CIB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epidermodysplasia verruciformis 3 618267 HPV infections and cancer of the skin Tags
Green List (high evidence)	CIB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 48, MIM# 609439 Tags
Green List (high evidence)	CIC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 45 MIM#617600 Tags
Green List (high evidence)	CIITA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 varied ID bronchiolitis pneumonia severe autoimmune cytopaenia CD4 T-cell lymphopaenia hypogammaglobulinemia absence of antigen-induced immune response chronic diarrhoea recurrent respiratory infections recurrent gastroenteritis failure to thrive liver/biliary tract disease Tags
Green List (high evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wolfram syndrome 2 MIM#604928 Tags
Green List (high evidence)	CIT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 17, primary, autosomal recessive (MIM#617090) Tags
Green List (high evidence)	CITED2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 8 - MIM#614433 Ventricular septal defect 2 - MIM#614431 Tags
Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Filippi syndrome, MIM# 272440 Tags
Green List (high evidence)	CLCF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cold-induced sweating syndrome 2 MIM#610313 Tags
Green List (high evidence)	CLCN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myotonia congenita, dominant 160800 Myotonia congenita, recessive 255700 Tags
Green List (high evidence)	CLCN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with ataxia, MIM# 615651 Hyperaldosteronism, familial, type II, MIM# 605635 Tags
Green List (high evidence)	CLCN3	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517 Tags
Green List (high evidence)	CLCN4	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity Tags
Green List (high evidence)	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dent disease, MIM#300009 Hypophosphatemic rickets, MIM#300554 Nephrolithiasis, type I, MIM#310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 Tags
Green List (high evidence)	CLCN6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173 Neurodegeneration Benign partial epilepsy febrile seizures NCL Tags
Green List (high evidence)	CLCN7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Osteopetrosis, autosomal recessive 4, MIM# 611490 Tags treatable
Green List (high evidence)	CLCNKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 3, MIM# 607364 Bartter syndrome, type 4b, digenic, MIM# 613090 Tags SV/CNV
Green List (high evidence)	CLDN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626 Tags
Green List (high evidence)	CLDN10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HELIX syndrome MIM#617671 hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX) Tags
Green List (high evidence)	CLDN11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy-22, MIM#619328 Tags
Green List (high evidence)	CLDN14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 29, MIM# 614035 Tags
Green List (high evidence)	CLDN16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomagnesemia 3, renal MIM#248250 amelogenesis imperfecta MONDO#0019507, CLDN16-related Tags
Green List (high evidence)	CLDN19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190 Tags
Green List (high evidence)	CLDN5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disorder, MONDO:0002254, CLDN5-related Tags
Green List (high evidence)	CLDN9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 116, MIM#619093 Tags
Green List (high evidence)	CLEC3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Macular dystrophy, retinal, 4, OMIM #619977 Tags founder
Green List (high evidence)	CLMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital short bowel syndrome , MIM#615237 Tags
Green List (high evidence)	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green List (high evidence)	CLN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Tags
Green List (high evidence)	CLN8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags
Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 10, MIM# 615803 Tags founder
Green List (high evidence)	CLPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 Tags
Green List (high evidence)	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Green List (high evidence)	CLRN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 3A, MIM# 276902 Tags
Green List (high evidence)	CLTC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green List (high evidence)	CNGA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 49 MIM#613756 Tags
Green List (high evidence)	CNGA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achromatopsia 2, MIM# 216900 Tags
Green List (high evidence)	CNGB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 45 MIM#613767 Tags
Green List (high evidence)	CNGB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achromatopsia 3, MIM# 262300 Tags
Green List (high evidence)	CNKSR2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Tags
Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green List (high evidence)	CNNM4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jalili syndrome 217080 amelogenesis imperfecta, cone-rod dystrophy Tags
Green List (high evidence)	CNOT1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Vissers-Bodmer syndrome, MIM#619033 Holoprosencephaly 12, with or without pancreatic agenesis OMIM# 618500 Tags
Green List (high evidence)	CNOT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608 Tags
Green List (high evidence)	CNOT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 Tags
Green List (high evidence)	CNOT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Green List (high evidence)	CNPY3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Green List (high evidence)	CNTN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Compton-North congenital myopathy MONDO:0012929 fetal akinesia deformation sequence MONDO:0008824 Tags
Green List (high evidence)	CNTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, MONDO:0015653, CNTN2-related Tags
Green List (high evidence)	CNTNAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomyelinating neuropathy, congenital, 3, MIM#618186 Lethal congenital contracture syndrome 7, MIM# 616286 Tags
Green List (high evidence)	CNTNAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Tags
Green List (high evidence)	COA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501 Cardioencephalomyopathy, fatal infantile, MONDO:0014668 Tags
Green List (high evidence)	COA7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387 Tags
Green List (high evidence)	COASY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 6 MIM#615643 Pontocerebellar hypoplasia, type 12 MIM#v618266 Tags
Green List (high evidence)	COCH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 9, MIM# 601369 Deafness, autosomal recessive 110, MIM# 618094 Tags
Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIg, MIM# 611209 Tags
Green List (high evidence)	COG4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Saul-Wilson syndrome, OMIM #618150 Congenital disorder of glycosylation, type IIj, OMIM #613489 Tags
Green List (high evidence)	COG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Green List (high evidence)	COG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIl, MIM# 614576 Tags
Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green List (high evidence)	COG8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIh, MIM# 611182 Tags
Green List (high evidence)	COL10A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal chondrodysplasia, Schmid type, MIM#156500 Tags
Green List (high evidence)	COL11A1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrochondrogenesis 1 (MIM#228520) Marshall syndrome (MIM#154780) Stickler syndrome, type II (MIM#604841) Tags
Green List (high evidence)	COL11A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome type 3 Deafness, autosomal dominant 13 MIM#601868 Deafness, autosomal recessive 53 MIM#609706 Fibrochondrogenesis 2 MIM#614524 Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840 Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150 Tags
Green List (high evidence)	COL12A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathic EDS Bethlem myopathy 2 MIM#616471 Ullrich congenital muscular dystrophy 2 MIM#616470 Tags
Green List (high evidence)	COL13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 19 (OMIM #616720) Tags treatable
Green List (high evidence)	COL17A1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional 4, intermediate MIM#619787 Epithelial recurrent erosion dystrophy MIM#122400 Amelogenesis imperfecta MONDO:0019507, COL17A1-related Tags
Green List (high evidence)	COL18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Knobloch syndrome, type 1, MIM# 267750 Tags
Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Caffey disease MIM#114000 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115 Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060 Osteogenesis imperfecta, type I MIM#166200 Osteogenesis imperfecta, type II MIM#166210 Osteogenesis imperfecta, type III MIM#259420 Osteogenesis imperfecta, type IV MIM#166220 Tags
Green List (high evidence)	COL1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120 Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821 Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320 Osteogenesis imperfecta, type II, MIM# 166210 Osteogenesis imperfecta, type III, MIM# 259420 Osteogenesis imperfecta, type IV, MIM# 166220 Tags
Green List (high evidence)	COL25A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrosis of extraocular muscles, congenital, 5, MIM# 616219 arthrogryposis multiplex congenita MONDO:0015168 Tags
Green List (high evidence)	COL27A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Steel syndrome, MIM #615155 Tags
Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achondrogenesis, type II or hypochondrogenesis 200610 Avascular necrosis of the femoral head 608805 Czech dysplasia 609162 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 Kniest dysplasia 156550 Legg-Calve-Perthes disease 150600 Osteoarthritis with mild chondrodysplasia 604864 Platyspondylic skeletal dysplasia, Torrance type 151210 SED congenita 183900 SMED Strudwick type 184250 Spondyloepiphyseal dysplasia, Stanescu type 616583 Spondyloperipheral dysplasia 271700 Stickler sydrome, type I, nonsyndromic ocular 609508 Stickler syndrome, type I 108300 Vitreoretinopathy with phalangeal epiphyseal dysplasia Tags
Green List (high evidence)	COL4A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773 Brain small vessel disease with or without ocular anomalies MIM#175780 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Tags
Green List (high evidence)	COL4A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral Palsy MONDO#0006497, COL4A2-related Brain small vessel disease 2 MIM# 614483 Tags
Green List (high evidence)	COL4A3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 Alport syndrome 3, autosomal dominant, MIM# 104200 Tags
Green List (high evidence)	COL4A3BP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder 34 (MIM#616351) Tags new gene name
Green List (high evidence)	COL4A4	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive MIM#203780 Hematuria, familial benign MIM#141200 Tags
Green List (high evidence)	COL4A5	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 1, X-linked, MIM# 301050 Tags
Green List (high evidence)	COL5A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic type, 1, MIM# 130000 Fibromuscular dysplasia, multifocal, MIM# 619329 Tags
Green List (high evidence)	COL5A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic type, 2 MIM#130010 Tags
Green List (high evidence)	COL6A1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green List (high evidence)	COL6A2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COL6A3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy 1 MIM#158810 Dystonia 27 MIM#616411 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COL7A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EBD inversa, MIM# 226600 EBD, Bart type MIM# 132000 EBD, localisata variant Epidermolysis bullosa dystrophica, MIM# 131750 Epidermolysis bullosa dystrophica, 226600 Epidermolysis bullosa pruriginosa 604129 Epidermolysis bullosa, pretibial, MIM# 131850 Transient bullous of the newborn 131705 Tags
Green List (high evidence)	COL8A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800 Corneal dystrophy, posterior polymorphous 2, MIM# 609140 Tags
Green List (high evidence)	COL9A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type IV, MIM# 614134 Tags
Green List (high evidence)	COL9A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204 Tags
Green List (high evidence)	COL9A3	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969 Stickler syndrome, type VI, MIM# 620022 Deafness AD Peripheral vitreoretinal degeneration and retinal detachment, AD Tags
Green List (high evidence)	COLEC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3MC syndrome 3, MONDO:0009554 3MC syndrome 3, OMIM:248340 Tags
Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3MC syndrome 2, MIM# 265050 Tags
Green List (high evidence)	COLGALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Brain small vessel disease 3 MIM#618360 Tags
Green List (high evidence)	COLQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 5, MIM# 603034 Tags clinical trial treatable
Green List (high evidence)	COMP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epiphyseal dysplasia, multiple, 1 MIM#132400 Pseudoachondroplasia MIM#177170 Tags STR
Green List (high evidence)	COPA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune interstitial lung, joint, and kidney disease, MIM 616414 Tags
Green List (high evidence)	COPB2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly 19, primary, autosomal recessive, MIM# 617800 Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Tags
Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Spastic ataxia 10, autosomal recessive, MIM# 620666 Tags treatable
Green List (high evidence)	COQ6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 6 MIM#614650 Tags
Green List (high evidence)	COQ7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 8 MIM#616733 Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402 Tags
Green List (high evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green List (high evidence)	COQ8B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 9 MIM#615573 Retinitis pigmentosa MONDO:0019200 Tags
Green List (high evidence)	COQ9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Green List (high evidence)	CORO1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 8, MIM# 615401 Tags treatable
Green List (high evidence)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green List (high evidence)	COX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Tags
Green List (high evidence)	COX20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Tags
Green List (high evidence)	COX6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039 MONDO:0014467 Tags
Green List (high evidence)	COX6A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062 Tags
Green List (high evidence)	COX6B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Green List (high evidence)	COX7B	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 2, MIM#300887 Tags
Green List (high evidence)	CP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290 Tags
Green List (high evidence)	CPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hereditary pancreatitis, MONDO:0008185, CPA1-related Tags
Green List (high evidence)	CPAMD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 8, MIM# 617319 Tags
Green List (high evidence)	CPE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 Tags
Green List (high evidence)	CPLX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 63, MIM# 617976 Tags
Green List (high evidence)	CPOX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coproporphyria, MIM#121300 Harderoporphyria, MIM#121300 Tags
Green List (high evidence)	CPS1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carbamoylphosphate synthetase I deficiency MIM#237300 Tags treatable
Green List (high evidence)	CPSF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Myopia 27, 618827 high myopia early-onset high myopia Tags
Green List (high evidence)	CPSF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Tags
Green List (high evidence)	CPT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CPT deficiency, hepatic, type IA, MIM# 255120 Tags treatable
Green List (high evidence)	CPT1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 73, autosomal dominant MIM#616282 MONDO:0014568 Tags
Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags treatable
Green List (high evidence)	CR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 7, MIM# 614699 Tags
Green List (high evidence)	CRADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Tags
Green List (high evidence)	CRB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 8 MIM#613835 Pigmented paravenous chorioretinal atrophy MIM#172870 Retinitis pigmentosa-12 MIM#600105 Tags
Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Focal segmental glomerulosclerosis 9, MIM# 616220 Tags
Green List (high evidence)	CREB3L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XVI, MIM#616229 Tags
Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rubinstein-Taybi syndrome 1, MIM# 180849 Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green List (high evidence)	CRELD1	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217 Tags
Green List (high evidence)	CRIPT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature with microcephaly and distinctive facies (MIM#615789) Rothmund-Thomson syndrome MONDO:0010002 Tags
Green List (high evidence)	CRLF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cold-induced sweating syndrome 1, MIM#272430 Tags
Green List (high evidence)	CRLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green List (high evidence)	CRNKL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VII MIM#610682 Tags
Green List (high evidence)	CRX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 7, MIM# 613829 Cone-rod retinal dystrophy-2 MIM#120970 Tags
Green List (high evidence)	CRY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Attention deficit/hyperactivity disorder (ADHD) Delayed sleep phase disorder (DSPD), Tags
Green List (high evidence)	CRYAA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 9, multiple types, MIM# 604219 Tags
Green List (high evidence)	CRYAB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 16, multiple types MIM#613763 AD, AR Myopathy, myofibrillar, 2 MIM#608810 AD Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related MIM#613869 AR Tags
Green List (high evidence)	CRYBA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 10, multiple types, MIM# 600881 Tags
Green List (high evidence)	CRYBA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 23, MIM# 610425 Tags
Green List (high evidence)	CRYBB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 17, multiple types, MIM# 611544 Tags
Green List (high evidence)	CRYBB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 3, multiple types, MIM# 601547 Tags
Green List (high evidence)	CRYBB3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 22, MIM# 609741 Tags
Green List (high evidence)	CRYGC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 2, multiple types, MIM# 604307 Tags
Green List (high evidence)	CRYGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 4, multiple types, MIM# 115700 Tags
Green List (high evidence)	CRYGS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 20, multiple types MIM#116100 Tags
Green List (high evidence)	CRYM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 40 MIM#616357 Tags
Green List (high evidence)	CSDE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CSDE1-related Tags
Green List (high evidence)	CSF1R	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476) Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820) Tags
Green List (high evidence)	CSF2RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 Tags
Green List (high evidence)	CSF2RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370 Tags
Green List (high evidence)	CSF3R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 Tags
Green List (high evidence)	CSGALNACT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green List (high evidence)	CSMD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	CSNK1G1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related Tags
Green List (high evidence)	CSNK2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Okur-Chung neurodevelopmental syndrome, MIM# 617062 Tags
Green List (high evidence)	CSNK2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Craniodigital syndrome-intellectual disability syndrome MONDO:0015463 Tags
Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green List (high evidence)	CSRP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hypertrophic cardiomyopathy12 MIM#612124 dilated cardiomyopathy 1M MIM#607482 Tags
Green List (high evidence)	CST3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral amyloid angiopathy, MIM# 105150 Tags founder
Green List (high evidence)	CST6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535 Tags
Green List (high evidence)	CSTA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peeling skin syndrome 4 MIM#607936 exfoliative ichthyosis Tags
Green List (high evidence)	CSTB	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 Keratolytic winter erythema (MIM#148370) Tags
Green List (high evidence)	CTBP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Tags
Green List (high evidence)	CTC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green List (high evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 21 (MIM#615502) Tags
Green List (high evidence)	CTDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 Tags deep intronic founder
Green List (high evidence)	CTLA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD Tags
Green List (high evidence)	CTNNA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970 Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related Tags
Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 7, MIM# 617572 Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Tags
Green List (high evidence)	CTNND1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Blepharocheilodontic syndrome 2, MIM# 617681 Tags
Green List (high evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cystinosis, atypical nephropathic MIM#219800 Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900 Cystinosis, nephropathic MIM#219800 Cystinosis, ocular nonnephropathic MIM#219750 Tags treatable
Green List (high evidence)	CTPS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 24, MIM# 615897 Recurrent/chronic bacterial and viral infections (EBV, VZV) EBV lymphoproliferation B-cell non-Hodgkin lymphoma Tags
Green List (high evidence)	CTR9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), CTR9 related Familial Wilms tumour, MONDO:0006058, CTR9-related Tags
Green List (high evidence)	CTSA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosialidosis, MIM# 256540 Cathepsin A-related arteriopathy with strokes and leukoencephalopathy Tags
Green List (high evidence)	CTSC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 Periodontitis 1, juvenile MIM#170650 Tags
Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 MONDO:0012414 Tags
Green List (high evidence)	CTSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 Tags
Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pycnodysostosis, MIM# 265800 Tags
Green List (high evidence)	CTU2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green List (high evidence)	CUBN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Imerslund-Grasbeck syndrome 1 MIM#261100 AR [Proteinuria, chronic benign] MIM#618884 Tags treatable
Green List (high evidence)	CUL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudohypoaldosteronism, type IIE 614496 Neurodevelopmental disorder with or without autism or seizures, MIM# 619239 Tags
Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354 Tags
Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-M syndrome 1, MIM# 273750 Yakut short stature syndrome Tags
Green List (high evidence)	CUX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Global developmental delay with or without impaired intellectual development, 618330 Tags
Green List (high evidence)	CUX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 67, MIM#618141 Tags
Green List (high evidence)	CWC27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Tags
Green List (high evidence)	CWF19L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 17, MIM#616127 intellectual disability, developmental delay Tags
Green List (high evidence)	CXCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes WHIM syndrome 2, 619407 Tags
Green List (high evidence)	CXCR4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes WHIM syndrome, MIM# 193670 Tags treatable
Green List (high evidence)	CXorf56	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Mental retardation, X-linked 107, MIM# 301013 Tags
Green List (high evidence)	CYB561	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Orthostatic hypotension 2, MIM# 618182 Tags
Green List (high evidence)	CYB5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Methemoglobinaemia and ambiguous genitalia, MIM# 250790 Tags
Green List (high evidence)	CYB5R3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Methaemoglobinaemia, type I and II, MIM# 250800 Tags
Green List (high evidence)	CYBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 4, autosomal recessive, MIM# 233690 MONDO:0009308 Tags
Green List (high evidence)	CYBB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease, X-linked, MIM# 306400 Tags
Green List (high evidence)	CYC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 6 MIM#615453 Tags
Green List (high evidence)	CYCS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 4, MIM# 612004 Tags
Green List (high evidence)	CYFIP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 65, MIM#618008 Tags
Green List (high evidence)	CYHR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, ZTRAF1-related Tags new gene name
Green List (high evidence)	CYLC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Spermatogenic failure, X-linked, 8, MIM# 301119 Tags
Green List (high evidence)	CYLD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brooke-Spiegler syndrome, 605041 Cylindromatosis, familial, 132700 Trichoepithelioma, multiple familial, 1, 601606 Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Green List (high evidence)	CYP11A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743 Tags
Green List (high evidence)	CYP11B1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 Aldosteronism, glucocorticoid-remediable, MIM# 103900 Tags treatable
Green List (high evidence)	CYP11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600). Tags treatable
Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Tags treatable
Green List (high evidence)	CYP19A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aromatase deficiency (MIM#613546), AR Aromatase excess syndrome (MIM#139300), AD Tags SV/CNV
Green List (high evidence)	CYP1B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 6, multiple subtypes, 617315 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 Tags
Green List (high evidence)	CYP21A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Tags SV/CNV
Green List (high evidence)	CYP24A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypercalcaemia, infantile, 1, MIM# 143880 MONDO:0020739 Tags
Green List (high evidence)	CYP26B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 Tags
Green List (high evidence)	CYP26C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Focal facial dermal dysplasia 4 MIM#614974 Tags
Green List (high evidence)	CYP27A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags treatable
Green List (high evidence)	CYP27B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags treatable
Green List (high evidence)	CYP2R1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Tags
Green List (high evidence)	CYP2U1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Green List (high evidence)	CYP3A4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vitamin D-dependent rickets-3, MIM#619073 Tags
Green List (high evidence)	CYP4F22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 5, MIM# 604777 Tags
Green List (high evidence)	CYP4V2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bietti crystalline corneoretinal dystrophy, MIM# 210370 Tags
Green List (high evidence)	CYP51A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO#0033853 Tags
Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 3 MIM#613812 Spastic paraplegia 5A, autosomal recessive MIM#270800 Disorders of bile acid biosynthesis Tags
Green List (high evidence)	D2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green List (high evidence)	DAAM2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 24, MIM# 619263 steroid-resistant nephrotic syndrome (SRNS) Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related Tags
Green List (high evidence)	DAG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Walker-Warburg syndrome and tectocerebellar dysgraphia Tags
Green List (high evidence)	DAGLA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Tags
Green List (high evidence)	DAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease MONDO:0044970, DAP3-related Tags
Green List (high evidence)	DARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green List (high evidence)	DARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green List (high evidence)	DAW1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570 Tags
Green List (high evidence)	DBH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dopamine beta-hydroxylase deficiency, MIM#223360 Tags
Green List (high evidence)	DBR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441 Viral infections of the brainstem Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510 Tags
Green List (high evidence)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type II (MIM#248600) Tags treatable
Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green List (high evidence)	DCC	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600 Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542 Tags
Green List (high evidence)	DCDC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 19, MIM# 616217 Sclerosing cholangitis, neonatal, MIM# 617394 Tags
Green List (high evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Van Maldergem syndrome 1, MIM# 601390 Tags
Green List (high evidence)	DCLRE1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 8, MIM# 620133 Tags
Green List (high evidence)	DCLRE1C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Omenn syndrome, MIM# 603554 Tags
Green List (high evidence)	DCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, congenital stromal, MIM# 610048 Tags
Green List (high evidence)	DCPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Al-Raqad syndrome, MIM#616459 Tags
Green List (high evidence)	DCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oculocutaneous albinism, type VIII, MIM# 619165 Tags
Green List (high evidence)	DCTN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641 MONDO:0011879 Perry syndrome, MIM# 168605 Tags
Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Green List (high evidence)	DDB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes White-Kernohan syndrome, MIM# 619426 Syndromic intellectual disability Tags
Green List (high evidence)	DDB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740 Tags
Green List (high evidence)	DDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Tags clinical trial treatable
Green List (high evidence)	DDHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 MONDO:0012256 Tags
Green List (high evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 Tags
Green List (high evidence)	DDR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665 Warburg-Cinotti syndrome, MIM# 618175 Tags
Green List (high evidence)	DDRGK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Shohat type (MIM#602557) Tags founder
Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warsaw breakage syndrome, MIM# 613398 MONDO:0013252 Tags
Green List (high evidence)	DDX17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DDX17-related Tags
Green List (high evidence)	DDX23	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DDX23-related Tags
Green List (high evidence)	DDX3X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green List (high evidence)	DDX53	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes autism spectrum disorder MONDO:0005258 Tags
Green List (high evidence)	DDX58	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Singleton-Merten syndrome 2, MIM# 616298 Tags new gene name
Green List (high evidence)	DDX59	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome V (MIM#174300) Tags
Green List (high evidence)	DDX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653 Tags
Green List (high evidence)	DEAF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171 Vulto-van Silfout-de Vries syndrome 615828 Tags
Green List (high evidence)	DEF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 87 and autoimmunity, MIM# 619573 Systemic autoimmunity Tags
Green List (high evidence)	DEGS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 18, MIM#618404 Tags
Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green List (high evidence)	DENND5B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related Tags
Green List (high evidence)	DEPDC5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 1, MIM#604364 Developmental and epileptic encephalopathy 111, MIM# 620504 Tags
Green List (high evidence)	DES	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419 Arrhythmogenic right ventricular cardiomyopathy Tags
Green List (high evidence)	DFNA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 5, MIM# 600994 Tags new gene name
Green List (high evidence)	DFNB59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 59, MIM# 610220 Tags
Green List (high evidence)	DGAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 7, protein-losing enteropathy type, MIM# 615863 Tags treatable
Green List (high evidence)	DGKE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 7, MIM# 615008 Tags
Green List (high evidence)	DGUOK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green List (high evidence)	DHCR24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Desmosterolosis MIM#602398 Disorders of the metabolism of sterols Tags
Green List (high evidence)	DHCR7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome (MIM#270400) Tags
Green List (high evidence)	DHDDS	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags founder
Green List (high evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Green List (high evidence)	DHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080 46XY sex reversal 7 MIM#233420 Tags
Green List (high evidence)	DHODH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Miller syndrome, MIM# 263750 Tags
Green List (high evidence)	DHPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Tags
Green List (high evidence)	DHRSX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 1DD, MIM# 301133 Tags
Green List (high evidence)	DHTKD1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750, AR Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025 Tags
Green List (high evidence)	DHX16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 Tags
Green List (high evidence)	DHX30	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, 617804 Tags
Green List (high evidence)	DHX37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 46,XY gonadal dysgenesis testicular regression syndrome (TRS) Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 Tags
Green List (high evidence)	DHX9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 75, MIM# 620988 Charcot-Marie-Tooth disease, MONDO:0015626 Tags
Green List (high evidence)	DIAPH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness thrombocytopenia 124900 Seizures cortical blindness microcephaly 616632 Tags
Green List (high evidence)	DIP2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Tags
Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Perlman syndrome MIM# 267000 Tags
Green List (high evidence)	DISP1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly, MONDO:0016296 Tags
Green List (high evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome Tags
Green List (high evidence)	DLAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E2 deficiency MIM#245348 Tags
Green List (high evidence)	DLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome MONDO:0005377 Tags
Green List (high evidence)	DLD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dihydrolipoamide dehydrogenase deficiency MIM#246900 Tags
Green List (high evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 90, MIM#300850 Tags
Green List (high evidence)	DLG4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder 62, MIM# 618793 Tags
Green List (high evidence)	DLG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yuksel-Vogel-Bauer syndrome, MIM#620703 Tags
Green List (high evidence)	DLK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Expert Review Green Phenotypes central precocious puberty Tags
Green List (high evidence)	DLL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability autism seizures variable brain abnormalities scoliosis Tags
Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 Tags
Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 6, MIM#616589 Tags
Green List (high evidence)	DLX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IV, MIM# 104510 Trichodontoosseous syndrome, MIM# 190320 Tags
Green List (high evidence)	DLX5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600 Split-hand/foot malformation 1 MIM#183600 Tags
Green List (high evidence)	DM1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 1 MIM#160900 Tags
Green List (high evidence)	DM2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 2 MIM#602668 Tags
Green List (high evidence)	DMAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, DMAP1-related Tags
Green List (high evidence)	DMC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary ovarian insufficiency non-obstructive azoospermia Tags
Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Becker muscular dystrophy MIM@300376 XLR Cardiomyopathy, dilated, 3B MIM#302045 XL Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Green List (high evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets MIM#241520 Tags
Green List (high evidence)	DMXL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM# 618663 Tags
Green List (high evidence)	DNA2	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rothmund-Thomson syndrome, type 4, MIM# 620819 Seckel syndrome 8, MIM#615807 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green List (high evidence)	DNAAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Green List (high evidence)	DNAAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 10, MIM# 612518 Tags
Green List (high evidence)	DNAAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 2, MIM# 606763 Tags
Green List (high evidence)	DNAAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 25, MIM# 615482 Tags founder SV/CNV
Green List (high evidence)	DNAAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 18, MIM# 614874 Tags
Green List (high evidence)	DNAH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes primary ciliary dyskinesia,37 MIM#617577 Spermatogenic failure 18 MIM#617576 Tags
Green List (high evidence)	DNAH10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 56, MIM# 619515 Tags
Green List (high evidence)	DNAH11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green List (high evidence)	DNAH17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes spermatogenic failure 39 (MONDO:0032845) Tags
Green List (high evidence)	DNAH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spermatogenic failure 45, MIM# 619094 Tags
Green List (high evidence)	DNAH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) Tags
Green List (high evidence)	DNAH7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related Tags
Green List (high evidence)	DNAH8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 46, MIM#619095 Asthenozoospermia primary ciliary dyskinesia Tags
Green List (high evidence)	DNAH9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 40, MIM# 618300 Tags
Green List (high evidence)	DNAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Green List (high evidence)	DNAI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Tags
Green List (high evidence)	DNAJB11	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 Ivermark II syndrome. Tags
Green List (high evidence)	DNAJB13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 34, MIM# 617091 Tags
Green List (high evidence)	DNAJB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green List (high evidence)	DNAJB4	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital myopathy 21 with early respiratory failure, MIM# 620326 distal myopathy MONDO:0018949 Tags
Green List (high evidence)	DNAJB6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511 Tags
Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Green List (high evidence)	DNAJC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type V MIM#610198 Tags
Green List (high evidence)	DNAJC21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure syndrome 3 - MIM#617052 Tags
Green List (high evidence)	DNAJC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192 Tags
Green List (high evidence)	DNAJC30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leber Hereditary Optic Neuropathy, MIM#619382 Tags
Green List (high evidence)	DNAJC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350 ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083 Tags
Green List (high evidence)	DNAJC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinson disease 19a, juvenile-onset - MIM#615528 Parkinson disease 19b, early-onset - MIM#615528 Tags
Green List (high evidence)	DNASE1L3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Systemic lupus erythematosus 16 - MIM#614420 Tags
Green List (high evidence)	DNASE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autoinflammatory-pancytopaenia syndrome, MIM# 619858 Tags
Green List (high evidence)	DNHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 65, MIM# 619712 Tags
Green List (high evidence)	DNM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346 Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Tags
Green List (high evidence)	DNM1L	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) Optic atrophy 5 - MIM#610708 (AD) Tags
Green List (high evidence)	DNM2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 MONDO:0011674 Tags
Green List (high evidence)	DNMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes congenital cataract Tags
Green List (high evidence)	DNMT1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Neuropathy, hereditary sensory, type IE, 614116 Tags
Green List (high evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tatton-Brown-Rahman syndrome, MIM# 615879 Heyn-Sproul-Jackson syndrome, MIM# 618724 Tags
Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860 facial dysmorphic features flat nasal bridge developmental delay macroglossia bacterial/opportunistic infections (recurrent) malabsorption cytopaenia malignancies multiradial configurations of chromosomes 1, 9, 16 Hypogammaglobulinaemia agammaglobulinaemia variable antibody deficiency decreased immunoglobulin production low T/B/NK cells Tags treatable
Green List (high evidence)	DOCK11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Tags
Green List (high evidence)	DOCK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 40 MIM# 616433 T/B-cell lymphopaenia early-onset invasive herpes/viral/bacterial Infections function defects in T/B/NK cells immunodeficiency defective IFN-mediated immunity elevated IgM normal IgG/IgA levels Tags
Green List (high evidence)	DOCK3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green List (high evidence)	DOCK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes DOCK4-related neurodevelopmental disorder (MONDO:0060490) Tags
Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 2, MIM#614219 Tags
Green List (high evidence)	DOCK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 23 MIM#615859 MONDO:0014371 Tags
Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700 T cell Lymphopaenia decraese T/B/NK cells Eosinophilia low IgM elevated IgE recurrent cutaneous/ viral/ bacterial/ fungal/ infections severe atopy/allergic disease autoimmune haemolytic anaemia eczema cancer diathesis Tags treatable
Green List (high evidence)	DOHH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Tags
Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 10, MIM# 254300 Fetal akinesia deformation sequence 3, MIM# 618389 Tags
Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green List (high evidence)	DONSON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and limb abnormalities, MIM# 617604 Microcephaly-micromelia syndrome, MIM# 251230 MONDO:0009619 Tags
Green List (high evidence)	DOT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DOT1L-related Tags
Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 Tags
Green List (high evidence)	DPF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 7, MIM#618027 Tags
Green List (high evidence)	DPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM# 616901 Tags
Green List (high evidence)	DPH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, MIM# 620070 Tags
Green List (high evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, 608799 Tags
Green List (high evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, MIM# 615042 Tags
Green List (high evidence)	DPM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Tags
Green List (high evidence)	DPP9	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hatipoglu immunodeficiency syndrome MIM#620331 Autoinflammatory syndrome MONDO:0019751, DPP9-related recurrent fevers repeated infections herpes susceptibility cytopenias Tags
Green List (high evidence)	DPY19L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 9 - MIM#613958 Tags
Green List (high evidence)	DPYD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 5-fluorouracil toxicity 274270 Dihydropyrimidine dehydrogenase deficiency 274270 Tags
Green List (high evidence)	DPYS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Dihydropyrimidinuria, MIM#222748 Tags
Green List (high evidence)	DPYSL5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ritscher-Schinzel syndrome 4, MIM# 619435 Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Tags
Green List (high evidence)	DRAM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 21 - MIM#616502 Tags
Green List (high evidence)	DRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 21, MIM# 615294 Spermatogenic failure 80, MIM# 620222 Tags SV/CNV
Green List (high evidence)	DRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tan-Almurshedi syndrome, MIM# 620641 Tags
Green List (high evidence)	DRP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Charcot Marie Tooth, intermediate X-linked HMSN Tags
Green List (high evidence)	DSCAM	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autism MONDO:0005260 Tags
Green List (high evidence)	DSE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539 Tags
Green List (high evidence)	DSG1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508) Keratosis palmoplantaris striata I, AD (MIM# 148700) Tags
Green List (high evidence)	DSG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotrichosis 6 - MIM#607903 Tags
Green List (high evidence)	DSPP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 39, with dentinogenesis - MIM#605594 Dentin dysplasia, type II - MIM#125420 Dentinogenesis imperfecta, Shields type II - MIM#125490 Dentinogenesis imperfecta, Shields type III - MIM#125500 Tags
Green List (high evidence)	DST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653 Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425 Tags
Green List (high evidence)	DTNA	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, MONDO:0020121, DTNA-related Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169 Tags
Green List (high evidence)	DTNBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 7, MIM# 614076 MONDO:0013559 Tags
Green List (high evidence)	DTYMK	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Tags
Green List (high evidence)	DUOX2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid dyshormonogenesis 6 - MIM#607200 Inflammatory bowel disease, MONDO:0005265, DUOX2-related Tags
Green List (high evidence)	DUOXA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid dyshormonogenesis 5 - MIM#274900 Tags
Green List (high evidence)	DUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Tags
Green List (high evidence)	DVL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal dominant 2 (MIM#616331) Tags
Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal dominant 3 MIM#616894 Tags
Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-McCort dysplasia , MM#607326 Dyggve-Melchior-Clausen disease, MIM#223800 Tags
Green List (high evidence)	DYNC1H1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 20 Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity-predominant 1 Tags
Green List (high evidence)	DYNC1I1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related Tags SV/CNV
Green List (high evidence)	DYNC1I2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Tags
Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127 Tags
Green List (high evidence)	DYNC2LI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Tags
Green List (high evidence)	DYRK1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 7 (MIM#614104) Tags SV/CNV
Green List (high evidence)	DYSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Miyoshi muscular dystrophy 1 254130 Muscular dystrophy, limb-girdle, autosomal recessive 2 253601 Myopathy, distal, with anterior tibial onset 606768 Tags
Green List (high evidence)	DZIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 5, MIM#617610 Tags
Green List (high evidence)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Tags
Green List (high evidence)	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 Tags
Green List (high evidence)	EBP	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960 Tags
Green List (high evidence)	ECEL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 5D, MIM# 615065 Tags
Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Leigh syndrome MONDO:0009723 cerebral palsy MONDO:0006497 paroxysmal dystonia MONDO:0016058 Tags
Green List (high evidence)	ECM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Urbach-Wiethe disease #247100 Tags
Green List (high evidence)	EDA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tooth agenesis, selective, X-linked 1 MIM#313500 Tags
Green List (high evidence)	EDAR	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 Tags
Green List (high evidence)	EDARADD	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	EDEM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 2V, MIM# 619493 Tags
Green List (high evidence)	EDN3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Waardenburg syndrome, type 4B, MIM# 613265 {Hirschsprung disease, susceptibility to, 4}, MIM# 613712 Tags
Green List (high evidence)	EDNRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis with alopecia, MIM# 616367 Tags
Green List (high evidence)	EDNRB	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome type 4A MONDO:0010192 sensorineural hearing loss pigmentary abnormalities Hirschsprung disease Tags
Green List (high evidence)	EED	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cohen-Gibson syndrome, MIM# 617561 Tags
Green List (high evidence)	EEF1A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625 Tags
Green List (high evidence)	EEF1B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092 non-syndromic ID and seizures Intellectual disability Tags
Green List (high evidence)	EEF2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, macrocephaly, hydrocephalus Spinocerebellar ataxia 26, MIM#609306 Tags
Green List (high evidence)	EEFSEC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related Tags
Green List (high evidence)	EFCAB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 53, MIM# 620642 Tags new gene name
Green List (high evidence)	EFEMP1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Doyne honeycomb degeneration of retina, MIM# 126600 Cutis laxa, autosomal recessive, type ID, MIM# 620780 Glaucoma 1, open angle, H, MIM# 611276 Tags
Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437 Tags
Green List (high evidence)	EFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shwachman-Diamond syndrome 2, MIM# 617941 Tags
Green List (high evidence)	EFNB1	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofrontonasal dysplasia, MIM# 304110 Tags
Green List (high evidence)	EFTUD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Tags
Green List (high evidence)	EGLN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrocytosis, familial, 3, MIM# 609820 Tags
Green List (high evidence)	EGR2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1D 607678 AD Dejerine-Sottas disease 145900 AD, AR Hypomyelinating neuropathy, congenital, 1 605253 AD, AR Tags
Green List (high evidence)	EHBP1L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related Tags
Green List (high evidence)	EHHADH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi renotubular syndrome 3 OMIM#615605 Tags
Green List (high evidence)	EHMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kleefstra syndrome 1 (MIM#610253) Tags
Green List (high evidence)	EIF2AK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness Dystonia Tags
Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wolcott-Rallison syndrome MONDO:0009192 neonatal diabetes mellitus epiphyseal dysplasia/osteopenia hepatic/renal dysfunction intellectual disability/developmental delay Tags
Green List (high evidence)	EIF2AK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pulmonary venoocclusive disease 2, MIM#234810 Tags
Green List (high evidence)	EIF2B1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 ataxia spasticity optic atrophy Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Tags
Green List (high evidence)	EIF2B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Ovarioleukodystrophy, MIM# 603896 Tags
Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 ataxia spasticity optic atrophy Tags
Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 leukoencephalopathy with vanishing white matter MONDO:0011380 ataxia spasticity optic atrophy primary ovarian failure Tags
Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 ataxia spasticity optic atrophy primary ovarian failure Tags
Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEHMO syndrome, MIM# 300148 Tags
Green List (high evidence)	EIF3F	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green List (high evidence)	EIF4A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green List (high evidence)	EIF4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green List (high evidence)	EIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Faundes-Banka syndrome, MIM# 619376 Intellectual disability microcephaly dysmorphism Tags
Green List (high evidence)	ELAC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green List (high evidence)	ELANE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Neutropaenia, cyclic, MIM# 162800 Tags
Green List (high evidence)	ELMO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vascular malformation, primary intraosseous, MIM#606893 Tags
Green List (high evidence)	ELN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes cutis laxa, autosomal dominant 1 MONDO:0007411 supravalvular aortic stenosis MONDO:0008504 Tags
Green List (high evidence)	ELOVL1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527 Tags
Green List (high evidence)	ELOVL4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760 spinocerebellar ataxia type 34 MONDO:0007574 Stargardt disease MONDO:0019353 Tags
Green List (high evidence)	ELOVL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes spinocerebellar ataxia type 38 MONDO:0014417 Tags
Green List (high evidence)	ELP1	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dysautonomia, familial MIM#223900 paediatric medulloblastoma neurodevelopmental disorder, MONDO:0700092, ELP1-related Tags
Green List (high evidence)	ELP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes intellectual disability, autosomal recessive 58 MONDO:0014996 Tags
Green List (high evidence)	EMC1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875 Tags
Green List (high evidence)	EMC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264 Tags founder
Green List (high evidence)	EMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 Tags
Green List (high evidence)	EMILIN1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, type X, MIM# 620080 Arterial tortuosity-bone fragility syndrome, MIM# 620908 Tags
Green List (high evidence)	EML1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Band heterotopia (MIM# 600348) Tags
Green List (high evidence)	EN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ENDOVE syndrome, limb-only type, MIM# 619217 ENDOVE syndrome, limb-brain type, MIM# 619218 Tags 5'UTR SV/CNV
Green List (high evidence)	ENAM	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IB, MIM# 104500 Amelogenesis imperfecta, type IC, MIM# 204650 Tags
Green List (high evidence)	ENG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary hemorrhagic telangiectasia MONDO:0019180 Tags
Green List (high evidence)	ENO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046 Tags
Green List (high evidence)	ENPP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial calcification, generalized, of infancy, 1, MIM# 208000 Cole disease, MIM# 615522 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Tags
Green List (high evidence)	ENTPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 64, autosomal recessive MIM#615683 Tags
Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 4, MIM#615297 Tags
Green List (high evidence)	EP300	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rubinstein-Taybi syndrome 2 MIM#613684 Menke-Hennekam syndrome 2 MIM#618333 Tags
Green List (high evidence)	EP400	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930 Tags
Green List (high evidence)	EPAS1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial erythrocytosis (MIM#611783), AD Tags
Green List (high evidence)	EPB41	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Elliptocytosis-1, MIM# 611804 Tags
Green List (high evidence)	EPB41L3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Tags
Green List (high evidence)	EPB42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spherocytosis, type 5, MIM# 612690 Tags
Green List (high evidence)	EPCAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217 Tags
Green List (high evidence)	EPG5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Vici syndrome, MIM# 242840 Tags
Green List (high evidence)	EPHA2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes cataract 6 multiple types MONDO:0007288 microphthalmia, MONDO:0021129, EPHA2-related Tags
Green List (high evidence)	EPHB4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD Lymphatic malformation 7 (MIM#617300), AD Tags
Green List (high evidence)	EPHX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hereditary lipodystrophy, MONDO:0020087, EPHX1-related Tags
Green List (high evidence)	EPM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lafora disease MONDO:0009697 Tags
Green List (high evidence)	EPO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes erythrocytosis, familial, 5 MONDO:0033483 Tags
Green List (high evidence)	EPOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes primary familial polycythemia due to EPO receptor mutation MONDO:0007572 Tags
Green List (high evidence)	EPRS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 15, MIM# 617951 Tags
Green List (high evidence)	EPS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428 Tags
Green List (high evidence)	EPS8L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness autosomal recessive 106, MIM# 617637 Tags
Green List (high evidence)	ERBB3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal congenital contractural syndrome 2, MIM# 607598 Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180 Hirschsprung disease Arthrogryposis Complex neurocristinopathy Tags
Green List (high evidence)	ERBB4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 19, MIM# MIM#615515 Intellectual disability MONDO:0001071 Tags
Green List (high evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554 Tags
Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 2, MIM# 610756 MONDO:0012553 Trichothiodystrophy 1, photosensitive, MIM# 601675 MONDO:0011125 Xeroderma pigmentosum, group D, MIM# 278730 MONDO:0010212 Tags
Green List (high evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651 Tags
Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215 XFE progeroid syndrome, MIM# 610965 MONDO:0012590 Tags
Green List (high evidence)	ERCC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216 Tags
Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type B, MIM#133540 Cerebrooculofacioskeletal syndrome 1, MIM#214150 De Sanctis-Cacchione syndrome, MIM#278800 Tags
Green List (high evidence)	ERCC6L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure syndrome 2, MIM# 615715 Tags
Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type A, MIM# 216400 MONDO:0019569 UV-sensitive syndrome 2, MIM# 614621 MONDO:0013829 Tags
Green List (high evidence)	ERF	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 4, MIM# 600775 Chitayat syndrome, MIM# 617180 Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related Tags
Green List (high evidence)	ERG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 14, MIM# 620602 Myelodysplasia syndrome, MONDO:0018881, ERG-related Tags
Green List (high evidence)	ERGIC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita 2, neurogenic type OMIM # 208100 Tags
Green List (high evidence)	ERI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hoxha-Aliu syndrome, MIM# 620662 Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 Tags
Green List (high evidence)	ERLEC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes autosomal dominant prognathism MONDO:0008312 Tags
Green List (high evidence)	ERLIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 62 MIM#615681 Tags
Green List (high evidence)	ERLIN2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Tags
Green List (high evidence)	ESAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Tags
Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300 Tags
Green List (high evidence)	ESPN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006 Tags
Green List (high evidence)	ESR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Estrogen resistance, MIM# 615363 Tags
Green List (high evidence)	ESRRB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 35, MIM#608565 Tags
Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Tags treatable
Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Tags treatable
Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Tags treatable
Green List (high evidence)	ETHE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ethylmalonic encephalopathy, MIM#602473 Tags treatable
Green List (high evidence)	ETV6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopaenia 5, MIM# 616216 Tags
Green List (high evidence)	EVC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome, MIM# 225500 Tags
Green List (high evidence)	EVC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome (MIM#225500) Tags
Green List (high evidence)	EXOC3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brain malformation renal syndrome, MIM# 620943 Tags
Green List (high evidence)	EXOC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675 Tags
Green List (high evidence)	EXOC7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and brain atrophy MIM#619072 brain atrophy seizures developmental delay microcephaly Tags
Green List (high evidence)	EXOSC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green List (high evidence)	EXOSC5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia Tags
Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1C, MIM# 616081 Tags founder
Green List (high evidence)	EXOSC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1D, MIM# 618065 Tags
Green List (high evidence)	EXPH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028 Tags
Green List (high evidence)	EXT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary multiple osteochondromas MONDO:0005508 exostoses, multiple, type 1 MONDO:0007585 Tags
Green List (high evidence)	EXT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Tags
Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green List (high evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment anomalies with or without cataract MIM#602588 Branchiootic syndrome 1 MIM#602588 Branchiootorenal syndrome 1, with or without cataracts MIM#113650 Tags
Green List (high evidence)	EYA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 10, MIM# 601316 Cardiomyopathy, dilated, 1J, MIM# 605362 Tags
Green List (high evidence)	EYS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 25 MONDO:0011272 Tags
Green List (high evidence)	EZH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), EZH1-related Tags
Green List (high evidence)	EZH2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Weaver syndrome MIM#277590 Tags
Green List (high evidence)	F10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor X deficiency, MIM# 227600 MONDO:0009212 Tags
Green List (high evidence)	F11	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XI deficiency, autosomal dominant 612416 Factor XI deficiency, autosomal recessive, MIM#612416 Tags
Green List (high evidence)	F12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hereditary angioedema type 3 MONDO:0012526 Tags
Green List (high evidence)	F13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XIIIA deficiency, MIM# 613225 MONDO:0013187 Tags
Green List (high evidence)	F13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XIIIB deficiency, 613235 Tags
Green List (high evidence)	F2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD {Stroke, ischemic, susceptibility to} 601367 Mu Dysprothrombinemia 613679 AR Hypoprothrombinemia 613679 AR Thrombophilia due to thrombin defect 188050 AD Tags 5'UTR
Green List (high evidence)	F5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor V deficiency, MIM# 227400 MONDO:0009210 Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560 {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055 Tags
Green List (high evidence)	F7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor VII deficiency, MIM# 227500 MONDO:0009211 Tags
Green List (high evidence)	F8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophilia A, MIM# 306700 MONDO:0010602 Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071 Tags
Green List (high evidence)	F9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophilia B, MIM# 306900 Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 Tags
Green List (high evidence)	FA2H	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia 35, autosomal recessive, MIM#611026 Tags
Green List (high evidence)	FADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FADD-related immunodeficiency MONDO:0013408 Tags
Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tyrosinemia type I MONDO:0010161 Tags treatable
Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478 Tags
Green List (high evidence)	FAM111B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Tags
Green List (high evidence)	FAM126A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hypomyelinating leukodystrophy 5 MONDO:0012514 Tags
Green List (high evidence)	FAM149B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 36 MONDO:0032902 Ciliopathy Tags
Green List (high evidence)	FAM161A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes retinitis pigmentosa 28 MONDO:0011630 Tags
Green List (high evidence)	FAM177A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO_0100500, FAM177A1-related Tags
Green List (high evidence)	FAM20A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690 Tags
Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Raine syndrome, MIM# 259775 MONDO:0009821 Tags
Green List (high evidence)	FAM46A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XVIII MIM#617952 Tags new gene name
Green List (high evidence)	FAM50A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Mental retardation syndrome, X-linked, Armfield type (MIM #300261) Tags
Green List (high evidence)	FAM57B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cone-rod dystrophy 22, MIM# 619531 Maculopathy Tags new gene name
Green List (high evidence)	FAM58A	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408 Tags
Green List (high evidence)	FAM83H	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IIIA MIM#130900 Tags
Green List (high evidence)	FAME1 STR	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, familial adult myoclonic, 1 MIM#601068 Tags
Green List (high evidence)	FAME2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, familial adult myoclonic, 2 MIM#607876 Tags
Green List (high evidence)	FAN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial nephritis, karyomegalic, MIM# 614817 Tags
Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351 Tags
Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213 Tags
Green List (high evidence)	FANCD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group D2, MIM#227646 MONDO:0009214 Tags
Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953 Tags
Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group F 603467 MONDO:0011325 Tags
Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group G, MIM# 614082 MONDO:0013565 Tags
Green List (high evidence)	FANCI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group I, MIM# 609053 MONDO:0012186 primary ovarian failure MONDO:0005387, FANCI-related Tags
Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group L, MIM# 614083 MONDO:0013566 Tags
Green List (high evidence)	FANCM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 28, MIM# 618086 Premature ovarian failure 15 MIM#618096 Tags
Green List (high evidence)	FAR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Cataracts, spastic paraparesis, and speech delay, MIM#619338 Tags
Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes combined oxidative phosphorylation defect type 14 MONDO:0013986 hereditary spastic paraplegia 77 MONDO:0014882 Tags
Green List (high evidence)	FARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 Tags
Green List (high evidence)	FARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215 Tags
Green List (high evidence)	FAS	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autoimmune lymphoproliferative syndrome MONDO:0017979 Tags
Green List (high evidence)	FASLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autoimmune lymphoproliferative syndrome MONDO:0017979 Tags
Green List (high evidence)	FASTKD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 44, MIM# 618855 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 Tags
Green List (high evidence)	FAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes syndromic disease MONDO:0002254, FAT1-related facial dysmorphism colobomatous microphthalmia ptosis syndactyly with or without nephropathy Tags
Green List (high evidence)	FAT2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 45, MIM#617769 Tags
Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006 Van Maldergem syndrome 2 MIM#615546 Tags
Green List (high evidence)	FBLN5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IA, MIM#219100 Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895) Tags
Green List (high evidence)	FBN2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital 121050 Macular degeneration, early-onset 616118 Tags
Green List (high evidence)	FBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes fructose-1,6-bisphosphatase deficiency MONDO:0009251 Tags
Green List (high evidence)	FBRSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes syndromic disease MONDO:0002254, FBRSL1-related Malformation and intellectual disability syndrome Tags
Green List (high evidence)	FBXL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects OMIM #606220 Tags
Green List (high evidence)	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green List (high evidence)	FBXO11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089 Tags
Green List (high evidence)	FBXO28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 100, MIM# 619777 Tags
Green List (high evidence)	FBXO31	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 45 (MIM#615979 Cerebral palsy, MONDO:0006497, FBXO31-related Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant Tags
Green List (high evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes parkinsonian-pyramidal syndrome MONDO:0009830 Tags
Green List (high evidence)	FBXW11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 Intellectual disability developmental eye anomalies digital anomalies Tags
Green List (high evidence)	FBXW7	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, hypotonia, and impaired language, MIM# 620012 Wilms tumour predisposition Tags
Green List (high evidence)	FCHO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 76, MIM# 619164 Combined immunodeficiency T cells: low, poor proliferation B cells: normal number Recurrent infections (viral, mycobacteria, bacterial, fungal) lymphoproliferation Failure to thrive Increased activation-induced T-cell death Defective clathrin-mediated endocytosis Tags
Green List (high evidence)	FDFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes squalene synthase deficiency MONDO:0032566 Tags
Green List (high evidence)	FDX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes inborn mitochondrial myopathy MONDO:0009637 Tags
Green List (high evidence)	FDXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM#617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green List (high evidence)	FECH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Protoporphyria, erythropoietic, 1 177000 AR Tags deep intronic SV/CNV
Green List (high evidence)	FEM1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, FEM1B-related Tags
Green List (high evidence)	FEM1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, FEM1C-related MONDO:0700092 Tags
Green List (high evidence)	FERMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kindler syndrome, MIM# 173650 Tags
Green List (high evidence)	FERMT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukocyte adhesion deficiency, type III, MIM# 612840 Tags
Green List (high evidence)	FEZF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FEZF2-related Tags
Green List (high evidence)	FGA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenemia, congenital (MIM#202400), AR Amyloidosis, familial visceral (MIM#105200), AD Tags
Green List (high evidence)	FGB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenaemia, congenital, MIM# 202400 Hypofibrinogenaemia, congenital, MIM# 202400 Dysfibrinogenaemia, congenital, MIM# 616004 Tags
Green List (high evidence)	FGD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400 Tags
Green List (high evidence)	FGD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, type 4H, 609311 MONDO:0012250 Tags
Green List (high evidence)	FGF10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital alveolar dysplasia due to FGF10 MONDO:0100090 acinar dysplasia caused by mutation in FGF10 MONDO:0600017 Tags
Green List (high evidence)	FGF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 47, MIM# 617166 Tags
Green List (high evidence)	FGF13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 90, MIM# 301058 Intellectual developmental disorder, X-linked 110, MIM# 301095 Tags 5'UTR
Green List (high evidence)	FGF14	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 27, MIM# 609307 Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 Tags
Green List (high evidence)	FGF16	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Metacarpal 4-5 fusion, MIM# 309630 Tags
Green List (high evidence)	FGF17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270 Tags
Green List (high evidence)	FGF23	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant hypophosphatemic rickets MONDO:0008660 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Tags
Green List (high evidence)	FGF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 Tags
Green List (high evidence)	FGF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes hypertrichosis MONDO:0019280 Tags
Green List (high evidence)	FGF8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702 Hypoplastic femurs and pelvis, MIM#619545 Tags SV/CNV
Green List (high evidence)	FGF9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple synostoses syndrome 3, OMIM # 612961 Craniosynostosis Tags
Green List (high evidence)	FGFR1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalocraniocutaneous lipomatosis, somatic mosaic 613001 Hartsfield syndrome 615465 Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Jackson-Weiss syndrome 123150 Osteoglophonic dysplasia 166250 Pfeiffer syndrome 101600 Trigonocephaly 1 190440 Tags somatic
Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410 Apert syndrome, MIM# 101200 Beare-Stevenson cutis gyrata syndrome, MIM# 123790 Bent bone dysplasia syndrome, MIM# 614592 Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600 Craniosynostosis, nonspecific Crouzon syndrome , MIM#123500 Jackson-Weiss syndrome,MIM# 123150 LADD syndrome, MIM# 149730 Pfeiffer syndrome,MIM# 101600 Saethre-Chotzen syndrome 101400 Tags
Green List (high evidence)	FGFR3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes achondroplasia MONDO:0007037 Thanatophoric dysplasia type 1 MONDO:0008546 Thanatophoric dysplasia type 2 MONDO:0008547 hypochondroplasia MONDO:0007793 Muenke syndrome MONDO:0011274 FGFR3-related chondrodysplasia MONDO:0019685 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504 Tags
Green List (high evidence)	FGG	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital fibrinogen deficiency MONDO:0018060 Tags
Green List (high evidence)	FH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary leiomyomatosis and renal cell cancer MONDO:0007888 fumaric aciduria MONDO:0011730 Tags
Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green List (high evidence)	FHOD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Tags SV/CNV
Green List (high evidence)	FICD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 92, autosomal recessive, MIM# 620911 Tags
Green List (high evidence)	FIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Yunis-Varon syndrome - MIM#216340 Polymicrogyria with epilepsy MIM# 612691 Charcot-Marie-Tooth disease, type 4J 611228 Amyotrophic lateral sclerosis 11, MIM# 612577 Tags
Green List (high evidence)	FIGLA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Premature ovarian failure 6, MIM# 612310 Tags
Green List (high evidence)	FILIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Tags
Green List (high evidence)	FITM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Siddiqi syndrome MIM#618635 dystonia deafness Tags
Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bruck syndrome 1, MONDO:0009806 Osteogenesis imperfecta, type XI, OMIM:610968 Osteogenesis imperfecta type 11, MONDO:0012592 Bruck syndrome 1, OMIM:259450 Tags
Green List (high evidence)	FKBP14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557 Tags
Green List (high evidence)	FKBP6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 77, MIM# 620103 Tags
Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags deep intronic
Green List (high evidence)	FLAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green List (high evidence)	FLCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Birt-Hogg-Dube syndrome (MIM#135150) Pneumothorax, primary spontaneous (MIM#173600) Tags
Green List (high evidence)	FLG	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis vulgaris MONDO:0024304 Tags
Green List (high evidence)	FLG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peeling skin syndrome 6, MIM# 618084 Tags
Green List (high evidence)	FLI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 21 MONDO:0054577 Tags
Green List (high evidence)	FLII	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2J, MIM# 620635 Tags
Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?FG syndrome 2, XL Cardiac valvular dysplasia, X-linked Congenital short bowel syndrome Frontometaphyseal dysplasia 1 Heterotopia, periventricular, 1 Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome Otopalatodigital syndrome, type I Otopalatodigital syndrome, type II Terminal osseous dysplasia Tags
Green List (high evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes spondylocarpotarsal synostosis syndrome MONDO:0010094 filamin-related bone disorder MONDO:0019690 Tags
Green List (high evidence)	FLNC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myofibrillar myopathy MONDO:0018943 Dilated cardiomyopathy MONDO:0005021 distal myopathy with posterior leg and anterior hand involvement MONDO:0013550 Tags
Green List (high evidence)	FLT4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects, multiple types, 7, MIM# 618780 Lymphatic malformation 1, MIM# 153100 Tags
Green List (high evidence)	FLVCR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177 Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060 Tags
Green List (high evidence)	FLVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Tags
Green List (high evidence)	FMN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 47, MIM#616193 Tags
Green List (high evidence)	FMO3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Trimethylaminuria, MIM#602079 Tags
Green List (high evidence)	FMR1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fragile X syndrome MONDO:0010383 Tags STR
Green List (high evidence)	FN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulopathy with fibronectin deposits 2 (MIM#601894) Spondylometaphyseal dysplasia, corner fracture type (MIM#184255) Tags
Green List (high evidence)	FNIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green List (high evidence)	FOCAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Liver disease, severe congenital, MIM# 619991 Tags
Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green List (high evidence)	FOSL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Tags
Green List (high evidence)	FOXA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Hyperinsulinism MONDO:0002177 Tags
Green List (high evidence)	FOXC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Axenfeld-Rieger syndrome, type 3, MIM# 602482 Tags
Green List (high evidence)	FOXC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoedema-distichiasis syndrome, MIM# 153400 Tags
Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bamforth-Lazarus syndrome, MIM# 241850 MONDO:0009437 Tags
Green List (high evidence)	FOXE3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 2, multiple subtypes, MIM#610256 Cataract 34, multiple types, MIM#612968 Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM#617349 Tags
Green List (high evidence)	FOXF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Tags
Green List (high evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rett syndrome, congenital variant, MIM# 613454 Tags
Green List (high evidence)	FOXI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal recessive distal renal tubular acidosis MONDO:0018440 Tags
Green List (high evidence)	FOXI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dysostosis with predominant craniofacial involvement (MONDO:0800085) Tags
Green List (high evidence)	FOXJ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 43, MIM#618699 hydrocephalus chronic destructive airway disease randomization of left/right body asymmetry Tags
Green List (high evidence)	FOXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100) Tags
Green List (high evidence)	FOXN1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0011132 Tags
Green List (high evidence)	FOXP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Green List (high evidence)	FOXP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Speech-language disorder-1, MIM# 602081 Tags
Green List (high evidence)	FOXP3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 Tags treatable
Green List (high evidence)	FOXP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder multiple congenital abnormalities Tags
Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 Tags
Green List (high evidence)	FRA10AC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fraser syndrome 1, MIM#219000 Tags
Green List (high evidence)	FREM1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Manitoba oculotrichoanal syndrome 248450 Bifid nose with or without anorectal and renal anomalies, MIM# 608980 Trigonocephaly 2, MIM# 614485 Tags
Green List (high evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cryptophthalmos, unilateral or bilateral, isolated MIM#123570 Fraser syndrome 2 MIM#617666 Tags
Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green List (high evidence)	FRMD7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nystagmus 1, congenital, X-linked 310700 Nystagmus, infantile periodic alternating, X-linked 310700 Tags
Green List (high evidence)	FRMPD4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Mental retardation, X-linked 104, MIM#300983 Tags
Green List (high evidence)	FRRS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy, 37 MONDO:0014859 Tags
Green List (high evidence)	FRYL	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Pan-Chung-Bellen syndrome, MIM# 621049 Tags
Green List (high evidence)	FSD1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, FSD1L-related Tags
Green List (high evidence)	FSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 24 without anosmia MONDO:0009239 Tags
Green List (high evidence)	FSHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ovarian dysgenesis 1 MONDO:0024463 Ovarian hyperstimulation syndrome MONDO:0011972 Tags
Green List (high evidence)	FTCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glutamate formiminotransferase deficiency MIM#229100 Disorders of histidine, tryptophan or lysine metabolism Tags
Green List (high evidence)	FTH1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hemochromatosis, type 5, MIM# 615517 Neurodegeneration with brain iron accumulation 9, MIM# 620669 Tags
Green List (high evidence)	FTO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth retardation, developmental delay, facial dysmorphism MIM#612938 Tags
Green List (high evidence)	FTSJ1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 9 MIM#309549 Tags
Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fucosidosis, MIM# 230000 MONDO:0009254 Tags
Green List (high evidence)	FUK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green List (high evidence)	FUT8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020775 Tags
Green List (high evidence)	FUZ	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Neural tube defects, susceptibility to} MIM#182940 craniosynostosis, FUZ-related MONDO#0015469 Ciliopathy_MONDO_0005308, FUZ-related skeletal ciliopathy Tags
Green List (high evidence)	FXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Friedreich ataxia MONDO:0100339 Tags
Green List (high evidence)	FXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital multi-minicore myopathy myopathy, congenital proximal, with minicore lesions MONDO:0032937 Tags
Green List (high evidence)	FYB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Thrombocytopenia 3, MIM# 273900 Tags
Green List (high evidence)	FYCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 18, MIM#610019 Tags
Green List (high evidence)	FZD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal dominant omodysplasia MONDO:0008123 Tags
Green List (high evidence)	FZD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 1, MIM# 133780 Tags
Green List (high evidence)	FZD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microphthalmia/coloboma 11, MIM# 620731 Tags
Green List (high evidence)	FZD6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail disorder, nonsyndromic congenital, 1, MIM# 161050 Hydrops fetalis, MONDO:0015193, FZD6-related Tags
Green List (high evidence)	FZR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 109, MIM# 620145 Tags
Green List (high evidence)	G6PC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ia, MIM# 232200 Tags treatable
Green List (high evidence)	G6PC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541 Tags
Green List (high evidence)	G6PD	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia, G6PD deficient (favism), MIM# 300908 Tags
Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II, MIM# 232300 MONDO:0009290 Tags
Green List (high evidence)	GABBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Tags
Green List (high evidence)	GABBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903 Tags
Green List (high evidence)	GABRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome Tags
Green List (high evidence)	GABRA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 78, MIM# 618557 Tags
Green List (high evidence)	GABRA3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 Tags
Green List (high evidence)	GABRA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, GABRA4-related Tags
Green List (high evidence)	GABRA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 79 OMIM #618559 Tags
Green List (high evidence)	GABRB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 45, MIM# 617153 Tags
Green List (high evidence)	GABRB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 Tags
Green List (high evidence)	GABRB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green List (high evidence)	GABRD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Susceptibility to epilepsy, MIM#613060 Tags
Green List (high evidence)	GABRG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green List (high evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral palsy, spastic quadriplegic, 1, MIM#603513 Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green List (high evidence)	GALE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Galactose epimerase deficiency MIM#230350 Thrombocytopenia 12, syndromic, MIM#620776 Tags treatable
Green List (high evidence)	GALK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Galactokinase deficiency with cataracts MIM#230200 Disorders of galactose metabolism Tags treatable
Green List (high evidence)	GALM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes galactosaemia type IV galactosaemia Tags
Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis IVA, MIM# 253000 MONDO:0009659 Tags treatable
Green List (high evidence)	GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation MONDO:0015286 Tags
Green List (high evidence)	GALNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Tags
Green List (high evidence)	GALT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Galactosaemia MIM#230400 Disorders of galactose metabolism Tags treatable
Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green List (high evidence)	GAN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Green List (high evidence)	GANAB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 3, MIM# 600666 Tags
Green List (high evidence)	GARS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial disease (MONDO:0044970), GARS1-related Spinal muscular atrophy, infantile, James type, MIM# 619042 Charcot-Marie-Tooth disease, type 2D, MIM# 601472 Neuronopathy, distal hereditary motor, type VA, MIM# 600794 Multi-system mitochondrial disorder Tags new gene name
Green List (high evidence)	GAS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 33, MIM#616726 Tags
Green List (high evidence)	GATA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 Diamond-Blackfan anemia (MONDO:0015253) Tags
Green List (high evidence)	GATA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 21, MIM# 614172 GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982 Emberger syndrome, MIM# 614038 Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Tags treatable
Green List (high evidence)	GATA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags
Green List (high evidence)	GATA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 2 MIM#607941 Atrioventricular septal defect 4 MIM#614430 Ventricular septal defect 1 MIM#614429 Tags
Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pancreatic agenesis and congenital heart defects, 600001 Atrial septal defect 9, 614475 Atrioventricular septal defect 5, 614474 Tetralogy of Fallot, 187500 Persistent truncus arteriosus, 217095 Tags
Green List (high evidence)	GATAD2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related Tags
Green List (high evidence)	GATAD2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 18, OMIM # 615074 Tags
Green List (high evidence)	GATM	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718 Fanconi renotubular syndrome 1, MIM# 134600 Tags
Green List (high evidence)	GBA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 46, autosomal recessive, MIM# 614409 MONDO:0013737 Tags
Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GBF1	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483 Axonal Neuropathy Tags
Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glutaric aciduria, type I MIM#231670 Organic acidurias Tags treatable
Green List (high evidence)	GCGR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mahvash disease, MIM# 619290 Tags
Green List (high evidence)	GCH1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Hereditary spastic paraplegia MONDO:0019064, GCH1-related Tags
Green List (high evidence)	GCK	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853) Diabetes mellitus, permanent neonatal 1, AR (MIM#606176) Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485) MODY, type II, AD (MIM#125851) Tags
Green List (high evidence)	GCLC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle Tags
Green List (high evidence)	GCM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism 4, OMIM #617343 Tags
Green List (high evidence)	GCNA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Spermatogenic failure, X-linked, 4, MIM# 301077 Tags
Green List (high evidence)	GCNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 13 with adult i phenotype, OMIM # 116700 Tags
Green List (high evidence)	GCSH	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green List (high evidence)	GDAP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706 Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340 Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Tags
Green List (high evidence)	GDAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 27, MIM#618369 Tags
Green List (high evidence)	GDF1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530 Tags
Green List (high evidence)	GDF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 Tags
Green List (high evidence)	GDF2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506 pulmonary arteriovenous malformations Tags
Green List (high evidence)	GDF5	3 reviews 2 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Type A1C brachydactyly (MIM#615072) Type A2 brachydactyly, (MIM#112600) Type C brachydactyly (MIM#113100) Grebe type chondrodysplasia (MIM#200700) Du Pan syndrome (MIM#228900) Multiple synostoses syndrome 2 (MIM#610017) Proximal Symphalangism 1B (MIM#615298) Tags
Green List (high evidence)	GDF6	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100 Leber congenital amaurosis 17 615360 Microphthalmia with coloboma 6, digenic 613703 Microphthalmia, isolated 4 613094 Multiple synostoses syndrome 4 617898 CAKUT Tags
Green List (high evidence)	GDF9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Premature ovarian failure 14, OMIM# 618014 Tags
Green List (high evidence)	GDI1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 41 MIM#300849 Tags
Green List (high evidence)	GEMIN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913 Tags
Green List (high evidence)	GEMIN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333 Tags
Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alexander disease, MIM# 203450 Tags
Green List (high evidence)	GFER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Tags
Green List (high evidence)	GFI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Tags treatable
Green List (high evidence)	GFI1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bleeding disorder, platelet-type, 17 MIM#187900 Tags
Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 1 MIM#609060 Tags
Green List (high evidence)	GFM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green List (high evidence)	GFPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Limb-girdle congenital myasthenic syndrome Leukoencephalopathy Tags
Green List (high evidence)	GFRA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal hypodysplasia/aplasia 4, MIM# 619887 Tags
Green List (high evidence)	GGCX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450 Tags
Green List (high evidence)	GGPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518 Muscular dystrophy Deafness Ovarian insufficiency Tags
Green List (high evidence)	GH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth hormone deficiency, isolated, type IA, MIM# 262400 Growth hormone deficiency, isolated, type II, MIM# 173100 Kowarski syndrome, MIM# 262650 Tags
Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity, partial, MIM# 604271 Laron dwarfism, MIM# 262500 Tags
Green List (high evidence)	GHRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth hormone deficiency, isolated, type IV, MIM# 618157 Tags
Green List (high evidence)	GIF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Intrinsic factor deficiency MIM#261000 Disorders of cobalamin absorption, transport and metabolism Tags new gene name
Green List (high evidence)	GIGYF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autism spectrum disorder (MONDO:0005258), GIGYF1-related Tags
Green List (high evidence)	GIMAP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Portal hypertension, noncirrhotic, 2, MIM# 619463 Tags
Green List (high evidence)	GIMAP6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome MONDO:0019751, GIMAP6-related Tags
Green List (high evidence)	GINS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 55, OMIM #617827 Tags
Green List (high evidence)	GINS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Tags
Green List (high evidence)	GIPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 15, MIM# 601869 Tags
Green List (high evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oculodentodigital dysplasia, autosomal recessive, MIM# 257850 Oculodentodigital dysplasia, MIM# 164200 Tags
Green List (high evidence)	GJA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 14, multiple types MIM#601885 Tags
Green List (high evidence)	GJA4	1 review 1 green	Other	Sources Expert Review Expert Review Green Phenotypes Cavernous hemangioma, MONDO:0003155, GJA4-related Tags somatic
Green List (high evidence)	GJA8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 1, multiple types, MIM# 116200 Microphthalmia Tags
Green List (high evidence)	GJB1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 MONDO:0010549 reversible posterior leukoencephalopathy Tags
Green List (high evidence)	GJB2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bart-Pumphrey syndrome, MIM#149200 Deafness, autosomal dominant 3A, MIM#601544 Deafness, autosomal recessive 1A, MIM#220290 Hystrix-like ichthyosis with deafness, MIM#602540 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Keratoderma, palmoplantar, with deafness, MIM#148350 Vohwinkel syndrome, MIM# 124500 Tags
Green List (high evidence)	GJB3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrokeratodermia variabilis et progressiva 1, MIM# 133200 Tags
Green List (high evidence)	GJB4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrokeratodermia variabilis et progressiva 2, MIM# 617524 Tags
Green List (high evidence)	GJB6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 3B, MIM# 612643 Deafness, autosomal recessive 1B, MIM# 612645 Ectodermal dysplasia 2, Clouston type, MIM# 129500 Tags SV/CNV
Green List (high evidence)	GJC2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 44, autosomal recessive MIM#613206 Leukodystrophy, hypomyelinating, 2 MIM#608804 Lymphatic malformation 3 MIM#613480 Tags
Green List (high evidence)	GK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glycerol kinase deficiency MIM#307030 Disorders of glycerol metabolism Tags
Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM# 230600 GM1-gangliosidosis, type III MIM#230650 Mucopolysaccharidosis type IVB (Morquio) MIM#253010 Tags
Green List (high evidence)	GLDC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glycine encephalopathy (MIM#605899) Tags
Green List (high evidence)	GLDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 11, MIM# 617194 MONDO:0014965 Tags
Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 1, MIM# 253310 Tags founder
Green List (high evidence)	GLI1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A8 MIM#618123 Polydactyly, preaxial I MIM#174400 Tags
Green List (high evidence)	GLI2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Culler-Jones syndrome, MIM#615849 Holoprosencephaly 9, MIM# 61082) Tags
Green List (high evidence)	GLI3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly, postaxial, types A1 and B, MIM#174200 Greig cephalopolysyndactyly syndrome MIM#175700 Polydactyly, preaxial, type IV MIM#174700 Pallister-Hall syndrome MIM#146510 Tags
Green List (high evidence)	GLIS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 7, OMIM#611498 MONDO:0012680 Tags
Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 Tags
Green List (high evidence)	GLMN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomuvenous malformations MIM#138000 Tags
Green List (high evidence)	GLRA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperekplexia 1, MIM# 149400 Tags
Green List (high evidence)	GLRA2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Tags
Green List (high evidence)	GLRB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperekplexia 2, MIM# 614619 Tags
Green List (high evidence)	GLRX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 3, pyridoxine-refractory Spasticity, childhood-onset, with hyperglycinemia Tags
Green List (high evidence)	GLS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 71, MIM# 618328 Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412 Cataract Tags
Green List (high evidence)	GLUD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Tags
Green List (high evidence)	GLUL	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 116, MIM# 620806 Glutamine deficiency, congenital MIM#610015 disorder of amino acid metabolism Tags
Green List (high evidence)	GLYCTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes D-glyceric aciduria MIM#220120 Disorders of serine, glycine or glycerate metabolism Tags
Green List (high evidence)	GM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, AB variant MIM#272750 Tags
Green List (high evidence)	GMNN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 6, MIM# 616835 Tags
Green List (high evidence)	GMPPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Tags
Green List (high evidence)	GMPPB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350) Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) Tags
Green List (high evidence)	GNA11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypocalcemia, autosomal dominant 2 MIM#615361 Hypocalciuric hypercalcemia, type II MIM#145981 Tags
Green List (high evidence)	GNAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Tags
Green List (high evidence)	GNAI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auriculocondylar syndrome 1, OMIM #602483 Tags
Green List (high evidence)	GNAL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 25, MIM# 615073 MONDO:0014033 Tags
Green List (high evidence)	GNAO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 17, MIM#615473 Neurodevelopmental disorder with involuntary movements, MIM# 617493 Tags
Green List (high evidence)	GNAQ	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Capillary malformations, congenital, 1, somatic, mosaic 163000 Phacomatosis pigmentovascularis Tags somatic
Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osseous heteroplasia, progressive (166350) AD Pituitary adenoma 3, multiple types, somatic (617686) Pseudohypoparathyroidism Ia (103580) AD Pseudohypoparathyroidism Ib (603233) AD Pseudohypoparathyroidism Ic (612462) AD Pseudopseudohypoparathyroidism (612463) Tags
Green List (high evidence)	GNAT1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444 Night blindness, congenital stationary, type 1G, MIM# 616389 Tags
Green List (high evidence)	GNAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achromatopsia 4, MIM#613856 Tags
Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 42, MIM# 616973 Tags
Green List (high evidence)	GNB2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and dysmorphic facies 619503 Tags
Green List (high evidence)	GNB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary, type 1H, MIM# 617024 Tags
Green List (high evidence)	GNB4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185 MONDO:0014074 Tags
Green List (high evidence)	GNB5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 Early infantile epileptic encephalopathy (EIEE) Tags
Green List (high evidence)	GNE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 12 with or without myopathy, MIM#620757 Nonaka myopathy 605820 Sialuria MIM#269921 ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	GNMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glycine N-methyltransferase deficiency MIM#606664 Disorders of the metabolism of sulphur amino acids Tags
Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 MONDO:0009112 Tags
Green List (high evidence)	GNPTAB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis II alpha/beta, MIM# 252500 MONDO:0009650 Mucolipidosis III alpha/beta, MIM# 252600 MONDO:0018931 Tags
Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis III gamma, MIM# 252605 MONDO:0009652 Tags
Green List (high evidence)	GNRH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 Tags
Green List (high evidence)	GNRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110 Tags
Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIID, MIM# 252940 Sanfilippo syndrome type D, MONDO:0009658 Tags
Green List (high evidence)	GOLGA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Green List (high evidence)	GON4L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	GON7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 9, MIM# 619603 Tags founder
Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Geroderma osteodysplasticum, MIM#231070 Tags
Green List (high evidence)	GOSR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 6 , MIM#614018 Muscular dystrophy, congenital, with or without seizures, MIM# 620166 Tags
Green List (high evidence)	GOT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 82, MIM# 618721 Tags
Green List (high evidence)	GP1BA	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS) von Willebrand disease, platelet-type, (MIM#177820), AD (VWD) MONDO:0008332 Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS) MONDO:0007930 Tags
Green List (high evidence)	GP1BB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type B, MIM# 231200 Macrothrombocytopaenia Tags
Green List (high evidence)	GP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 11, MIM# 614201 MONDO:0013623 Tags
Green List (high evidence)	GP9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type C, MIM# 231200 Tags
Green List (high evidence)	GPAA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810 Tags
Green List (high evidence)	GPATCH11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related Leber congenital amaurosis and developmental delay Tags
Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 Tags
Green List (high evidence)	GPC4	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keipert syndrome OMIM# 301026 Tags
Green List (high evidence)	GPC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Omodysplasia 1 (MIM#258315), AR Tags SV/CNV
Green List (high evidence)	GPD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypertriglyceridemia, transient infantile MIM#614480 glycerol-3-phosphate dehydrogenase deficiency Tags
Green List (high evidence)	GPHN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency C, MIM# 615501 Epilepsy Autism Intellectual disability Tags SV/CNV
Green List (high evidence)	GPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470 Tags
Green List (high evidence)	GPIHBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperlipoproteinemia, type 1D MIM#615947 familial chylomicronemia syndrome Tags
Green List (high evidence)	GPNMB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, primary localized cutaneous, 3, MIM# 617920 Tags
Green List (high evidence)	GPR143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital nystagmus 6, MIM 300814 type I ocular albinism, Nettleship-Falls type, MIM 300500 Tags
Green List (high evidence)	GPR156	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 121, MIM# 620551 Tags
Green List (high evidence)	GPR161	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Predisposition to paediatric medulloblastoma Tags
Green List (high evidence)	GPR179	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565) Tags
Green List (high evidence)	GPR68	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217 Tags
Green List (high evidence)	GPRC5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 3 620447 Tags
Green List (high evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chudley-McCullough syndrome, MIM# 604213 Tags
Green List (high evidence)	GPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green List (high evidence)	GPX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 Tags
Green List (high evidence)	GREB1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal hypodysplasia/aplasia 3, OMIM# 617805 Deafness, autosomal dominant 80, MIM# 619274 Tags
Green List (high evidence)	GRHL2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029 Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Deafness, autosomal dominant 28, MIM# 608641 Tags
Green List (high evidence)	GRHL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Van der Woude syndrome 2 MIM#606713 Tags
Green List (high evidence)	GRHPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperoxaluria, primary, type II, MIM# 260000 MONDO:0009824 Tags
Green List (high evidence)	GRIA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Tags
Green List (high evidence)	GRIA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism Rett-like features epileptic encephalopathy Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917 Tags
Green List (high evidence)	GRIA3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Tags
Green List (high evidence)	GRIA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Tags
Green List (high evidence)	GRID2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 18 MIM#616204 Tags SV/CNV
Green List (high evidence)	GRIK2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive, 6 MIM# 611092 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 Tags
Green List (high evidence)	GRIN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 101, MIM# 619814 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Tags
Green List (high evidence)	GRIN2A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Tags
Green List (high evidence)	GRIN2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139 Tags
Green List (high evidence)	GRIN2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 46 MIM#617162 Tags
Green List (high evidence)	GRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fraser syndrome 3 MIM#617667 CAKUT Tags
Green List (high evidence)	GRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oguchi disease-2, 613411 Tags
Green List (high evidence)	GRM1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 44 MIM#617691 Spinocerebellar ataxia, autosomal recessive 13 MIM#614831 Tags
Green List (high evidence)	GRM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270 Tags
Green List (high evidence)	GRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, microcephaly, developmental delay neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Tags
Green List (high evidence)	GRXCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 25, MIM# 613285 Tags
Green List (high evidence)	GRXCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 101, MIM# 615837 Tags
Green List (high evidence)	GSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Tags
Green List (high evidence)	GSN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, Finnish type, MIM# 105120 Tags
Green List (high evidence)	GSS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glutathione synthetase deficiency MIM#266130 Hemolytic anemia due to glutathione synthetase deficiency MIM#231900 Disorders of the gamma-glutamyl cycle Tags
Green List (high evidence)	GTF2H5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 MONDO:0014619 Tags
Green List (high evidence)	GTF3C3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Tags
Green List (high evidence)	GTF3C5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, GTF3C5-related Tags
Green List (high evidence)	GTPBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888 Tags
Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green List (high evidence)	GTPBP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198 Tags
Green List (high evidence)	GUCA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone dystrophy-3, MIM# 602093 Cone-rod dystrophy 14, MIM# 602093 Tags
Green List (high evidence)	GUCY1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Moyamoya 6 with achalasia, MIM# 615750 Tags
Green List (high evidence)	GUCY2C	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 6, MIM# 614616 Meconium ileus, MIM# 614665 Tags
Green List (high evidence)	GUCY2D	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 6, MIM# 601777 Leber congenital amaurosis 1, MIM# 204000 Night blindness, congenital stationary, type 1I, MIM# 618555 Tags
Green List (high evidence)	GUK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis VII, MIM# 253220 MONDO:0009662 Tags
Green List (high evidence)	GYG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 2, MIM# 616199 Glycogen storage disease XV , MIM# 613507 Tags
Green List (high evidence)	GYS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, muscle, MIM# 611556 Tags
Green List (high evidence)	GYS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, liver (MIM#240600) Tags
Green List (high evidence)	GZF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joint laxity, short stature, and myopia, MIM# 617662 Larsen-like syndrome Tags
Green List (high evidence)	H3F3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability regression seizures Tags
Green List (high evidence)	H3F3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability regression seizures Tags
Green List (high evidence)	H6PD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortisone reductase deficiency 1, MIM# 604931 Tags
Green List (high evidence)	HAAO	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660 NAD deficiency Tags
Green List (high evidence)	HACD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy, MONDO:0019952 Tags
Green List (high evidence)	HACE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Tags
Green List (high evidence)	HADH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975 Tags
Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LCHAD deficiency, MIM# 609016 MONDO:0012173 Tags treatable
Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency, MIM# 609015 Tags treatable
Green List (high evidence)	HAMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemochromatosis, type 2B, MIM# 613313 Tags
Green List (high evidence)	HARS	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625 Usher syndrome type 3B MIM#614504 Multisystemic ataxic syndrome Tags
Green List (high evidence)	HARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Green List (high evidence)	HAVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Tags
Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green List (high evidence)	HBA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrocytosis 7, MIM# 617981 Heinz body anemias, alpha-, MIM# 140700 Methemoglobinemia, alpha type , MIM#617973 Thalassemias, alpha-, MIM# 604131 Hemoglobin H disease, nondeletional, MIM# 613978 Tags SV/CNV
Green List (high evidence)	HBA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrocytosis 7, MIM# 617981 Heinz body anaemia, MIM# 140700 Haemoglobin H disease, deletional and nondeletional, MIM# 613978 Thalassaemia, alpha-, MIM# 604131 Tags SV/CNV
Green List (high evidence)	HBB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Delta-beta thalassemia 141749 Erythrocytosis 6 617980 Heinz body anemia 140700 Hereditary persistence of fetal hemoglobin 141749 Methemoglobinemia, beta type 617971 Sickle cell anemia 603903 Thalassemia-beta, dominant inclusion-body 603902 Thalassemia, beta 613985 Tags
Green List (high evidence)	HBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Fetal haemoglobin quantitative trait locus 1, 141749 Tags
Green List (high evidence)	HBG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal hemoglobin quantitative trait locus 1, MIM# 141749 Cyanosis, transient neonatal, MIM# 613977 Tags
Green List (high evidence)	HCCS	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green List (high evidence)	HCFC1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 Tags
Green List (high evidence)	HCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 24, MIM# 615871 Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Tags
Green List (high evidence)	HCN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Febrile seizures, familial, 2, MIM# 602477 Genetic epilepsy with febrile seizures plus Other seizure disorders Neurodevelopmental disorder (MONDO#0700092), HCN2-related Tags
Green List (high evidence)	HDAC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Tags
Green List (high evidence)	HDAC4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachydactyly mental retardation syndrome Brachydactyly without intellectual disability Intellectual disability syndrome Tags
Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Green List (high evidence)	HDL2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Huntington disease-like 2 MIM#606438 Tags
Green List (high evidence)	HEATR3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related Tags
Green List (high evidence)	HECTD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 Tags
Green List (high evidence)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 Tags
Green List (high evidence)	HECW2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268 intellectual disability epilepsy regression microcephaly Tags
Green List (high evidence)	HELLS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911 MONDO:0014829 Tags
Green List (high evidence)	HEPACAM	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Tags
Green List (high evidence)	HERC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011 Tags
Green List (high evidence)	HERC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 38 (MIM 615516) Tags
Green List (high evidence)	HES7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 4, autosomal recessive MIM#613686 Tags
Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth hormone deficiency with pituitary anomalies, MIM#182230 Pituitary hormone deficiency, combined, 5, MIM#182230 Septooptic dysplasia, MIM#182230 Tags
Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 MONDO:0010100 Tags
Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006 Tags
Green List (high evidence)	HFE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemochromatosis, MIM# 235200 Tags
Green List (high evidence)	HFE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 2A, MIM# 602390 Tags new gene name
Green List (high evidence)	HFM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Premature ovarian failure 9 MIM#615724 Tags
Green List (high evidence)	HGD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Alkaptonuria MIM#203500 Disorders of phenylalanine or tyrosine metabolism Tags
Green List (high evidence)	HGF	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 39, MIM# 608265 Lymphoedema, MONDO:0019297, HGF-related Tags deep intronic founder
Green List (high evidence)	HGSNAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687 Tags
Green List (high evidence)	HHAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nivelon-Nivelon-Mabille syndrome 600092 Tags
Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green List (high evidence)	HID1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Tags
Green List (high evidence)	HIKESHI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 13, MIM# 616881 Tags
Green List (high evidence)	HINT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646 Tags
Green List (high evidence)	HIRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags
Green List (high evidence)	HIST1H1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rahman syndrome, MIM# 617537 Tags
Green List (high evidence)	HIST1H4C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Tags new gene name
Green List (high evidence)	HIST1H4E	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950 Tags new gene name
Green List (high evidence)	HIST1H4I	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related Tags new gene name
Green List (high evidence)	HIVEP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 43 MIM#616977 Tags
Green List (high evidence)	HK1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary motor and sensory, Russe type , MIM#605285 Haemolytic anaemia due to hexokinase deficiency, MIM# 235700 Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Retinitis pigmentosa 79, MIM# 617460 Tags deep intronic
Green List (high evidence)	HLCS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green List (high evidence)	HMBS	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Porphyria, acute intermittent, MIM#176000 Porphyria, acute intermittent, non-erythroid variant, MIM#176000 Encephalopathy, porphyria-related MIM#620704 Leukoencephalopathy, porphyria-related, MIM#620711 Tags
Green List (high evidence)	HMGA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Silver-Russel syndrome, MIM#618908 Tags SV/CNV
Green List (high evidence)	HMGB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Neurodevelopmental disorder MONDO:0700092, HMGB1-related Tags
Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags SV/CNV treatable
Green List (high evidence)	HMGCR	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related Tags
Green List (high evidence)	HMGCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rigid spine syndrome, MONDO:0019951, HMGCS1-related Tags
Green List (high evidence)	HMGCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HMG-CoA synthase-2 deficiency, MIM# 605911 Tags
Green List (high evidence)	HMOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heme oxygenase-1 deficiency, MIM# 614034 Asplenia Tags
Green List (high evidence)	HMX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oculoauricular syndrome, MIM#612109 Tags SV/CNV
Green List (high evidence)	HNF1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, insulin-dependent, 20, MIM# 612520 MODY, type III , MIM#600496 Tags
Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags SV/CNV
Green List (high evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026 MODY, type I, OMIM # 125850 Tags
Green List (high evidence)	HNMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 51, MIM#616739 Tags
Green List (high evidence)	HNRNPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Green List (high evidence)	HNRNPA2B1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 Tags
Green List (high evidence)	HNRNPC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder-74, MIM#620688 Tags
Green List (high evidence)	HNRNPD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags
Green List (high evidence)	HNRNPDL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115 Tags
Green List (high evidence)	HNRNPH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083 Tags
Green List (high evidence)	HNRNPH2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green List (high evidence)	HNRNPK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Au-Kline syndrome MIM#616580 Tags
Green List (high evidence)	HNRNPR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Tags
Green List (high evidence)	HNRNPU	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 54 MIM# 617391 Tags
Green List (high evidence)	HOGA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperoxaluria, primary, type III MIM#613616 Tags
Green List (high evidence)	HOMER2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 68, MIM# 616707 Tags
Green List (high evidence)	HOXA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Athabaskan brainstem dysgenesis syndrome MIM#601536 Bosley-Salih-Alorainy syndrome MIM#601536 Tags
Green List (high evidence)	HOXA13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hand-foot-uterus syndrome, MIM# 140000 Tags
Green List (high evidence)	HOXA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microtia with or without hearing impairment, MIM# 612290 Tags
Green List (high evidence)	HOXB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Facial paresis, hereditary congenital, 3, MIM# 614744 MONDO:0013880 Tags
Green List (high evidence)	HOXC13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 9, hair/nail type MIM#614931 Tags
Green List (high evidence)	HOXD13	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200 Syndactyly, type V, MIM# 186300 Synpolydactyly 1, MIM# 186000 Brachydactyly-syndactyly syndrome, MIM# 610713 Tags
Green List (high evidence)	HPCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 2, torsion, autosomal recessive, MIM# 224500 MONDO:0009141 Tags
Green List (high evidence)	HPD	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hawkinsinuria (MIM#140350), AD Tyrosinemia type III (MIM#276710), AR Tags
Green List (high evidence)	HPDL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia-83 (SPG83), MIM#619027 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green List (high evidence)	HPGD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100 Cranioosteoarthropathy MIM#259100 Tags
Green List (high evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HPRT-related gout (MIM# 300323) Lesch-Nyhan syndrome (MIM# 300322) Tags
Green List (high evidence)	HPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 MONDO:0008748 Tags
Green List (high evidence)	HPS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 3, MIM# 614072 MONDO:0013555 Tags
Green List (high evidence)	HPS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556 Tags
Green List (high evidence)	HPS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 5 (MIM#614074) Tags
Green List (high evidence)	HPS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 6, MIM# 614075 MONDO:0013558 Tags
Green List (high evidence)	HPSE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Urofacial syndrome 1 MIM#236730 Tags
Green List (high evidence)	HR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alopecia universalis MIM#203655 Atrichia with papular lesions MIM#209500 Tags
Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Costello syndrome, MIM# 218040 Tags
Green List (high evidence)	HRG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombophilia 11 due to HRG deficiency, MIM# 613116 Tags
Green List (high evidence)	HS2ST1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Intellectual disability dysmorphic features congenital anomalies Tags
Green List (high evidence)	HSD11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Apparent mineralocorticoid excess, MIM# 218030 MONDO:0009025 Tags
Green List (high evidence)	HSD17B10	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease, MIM# 300438 Tags
Green List (high evidence)	HSD17B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudohermaphroditism, male, with gynecomastia MIM#264300 Tags
Green List (high evidence)	HSD17B4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Tags
Green List (high evidence)	HSD3B7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 1 MIM#607765 Disorders of bile acid biosynthesis Tags
Green List (high evidence)	HSF2BP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Premature ovarian failure, OMIM#619245 Tags
Green List (high evidence)	HSF4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 5, multiple types, 116800 Tags
Green List (high evidence)	HSPA9	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 4, MIM# 182170 Even-plus syndrome, MIM#616854 skeletal anomalies congenital cardiac and renal anomalies: marked small nose Tags
Green List (high evidence)	HSPB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, axonal, type 2F, 606595 MONDO:0011687 Neuropathy, distal hereditary motor, type IIB, 608634 MONDO:0012080 Tags
Green List (high evidence)	HSPB8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078 Distal myopathy Vacuolar myopathy Neuropathy, distal hereditary motor type IIA, 158590 Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 Tags
Green List (high evidence)	HSPD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, MIM# 612233 Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Green List (high evidence)	HSPG2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 MONDO:0009717 Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410 MONDO:0009140 Tags
Green List (high evidence)	HTR2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Obesity disorder, MONDO:0011122, HTR2C-related Tags
Green List (high evidence)	HTRA1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Macular degeneration, age-related, 7}, 6101493 {Macular degeneration, age-related, neovascular type}, 610149 CARASIL syndrome, 600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 Tags
Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Turner type Say-Meyer syndrome Juberg-Marsidi syndrome Tags
Green List (high evidence)	HYAL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063 Tags
Green List (high evidence)	HYDIN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 5 (MIM#608647) Tags
Green List (high evidence)	HYLS1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome (MIM#236680) Tags founder
Green List (high evidence)	HYOU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 59 and hypoglycemia, MIM# 233600 Tags
Green List (high evidence)	IARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags new gene name
Green List (high evidence)	IARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Tags
Green List (high evidence)	IBA57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Spastic paraplegia 74, autosomal recessive MIM#616451 Tags
Green List (high evidence)	ICK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Endocrine-cerebroosteodysplasia (MIM#612651) Tags
Green List (high evidence)	ICOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 1 MIM# 607594 Tags
Green List (high evidence)	IDH1	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ollier disease MONDO:0008145 Maffucci syndrome MONDO:0013808 Tags somatic
Green List (high evidence)	IDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria 2, MIM# 613657 Tags
Green List (high evidence)	IDH3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 90, MIM#619007 Tags
Green List (high evidence)	IDH3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 46, MIM# 612572 Tags
Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis II, MIM# 309900 MONDO:0010674 Hunter syndrome Tags
Green List (high evidence)	IDUA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Ih (MIM#607014) Mucopolysaccharidosis Ih/s (MIM#607015) Mucopolysaccharidosis Is (MIM#6070) Mucopolysaccharidosis type 1, MONDO:0001586 Tags
Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green List (high evidence)	IFIH1	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846 Early-onset Inflammatory Bowel Disease Tags
Green List (high evidence)	IFITM5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type V MIM#610967 Tags 5'UTR
Green List (high evidence)	IFNAR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 106, susceptibility to viral infections, MIM# 619935 Severe disease caused by Yellow Fever vaccine and Measles vaccine Tags
Green List (high evidence)	IFNAR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 45, MIM# 616669 Tags
Green List (high evidence)	IFNGR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950 Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Tags
Green List (high evidence)	IFNGR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 28, mycobacteriosis, MIM# 614889 Tags
Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 1, MIM# MIM#218330 MONDO:0021093 Tags
Green List (high evidence)	IFT140	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 MONDO:0009964 Retinitis pigmentosa 80, MIM# 617781 Cystic Kidney Disease, MONDO: 0002473 Tags
Green List (high evidence)	IFT172	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 71 616394 Short-rib thoracic dysplasia 10 with or without polydactyly - 615630 Bardet-Biedl syndrome 20, MIM# 619471 Tags
Green List (high evidence)	IFT27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 19, MIM#615996 Tags
Green List (high evidence)	IFT43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866 Retinitis pigmentosa 81 , MIM#617871 Cranioectodermal dysplasia 3, MIM# 614099 Tags
Green List (high evidence)	IFT52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 Tags
Green List (high evidence)	IFT74	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bardet-Biedl syndrome 20, MIM# 617119 Joubert syndrome 40, MIM# 619582 Spermatogenic failure 58, MIM# 619585 Tags
Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 MONDO:0012644 Tags
Green List (high evidence)	IFT81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Tags
Green List (high evidence)	IGF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 Tags
Green List (high evidence)	IGF1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Insulin-like growth factor I, resistance to, MIM# 270450 Tags
Green List (high evidence)	IGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth restriction, severe, with distinctive facies, MIM#616489 Tags
Green List (high evidence)	IGFALS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acid-labile subunit, deficiency of, MIM# 615961 Tags
Green List (high evidence)	IGHM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Agammaglobulinemia 1, MIM# 601495 Tags
Green List (high evidence)	IGHMBP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VI, MIM# 604320 Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 Tags
Green List (high evidence)	IGLL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 2, MIM# 613500 Tags
Green List (high evidence)	IGSF1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888 Tags
Green List (high evidence)	IHH	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrocapitofemoral dysplasia MIM#607778 Brachydactyly, type A1 MIM#112500 Tags
Green List (high evidence)	IKBKB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 15A, MIM# 618204 Immunodeficiency 15B, MIM# 615592 Tags
Green List (high evidence)	IKBKG	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 1, MIM# 300291 Immunodeficiency 33 , MIM#300636 Incontinentia pigmenti, MIM# 308300 Autoinflammatory disease, systemic, X-linked, MIM# 301081 Tags SV/CNV
Green List (high evidence)	IKZF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 13 MIM# 616873 recurrent bacterial respiratory infections Thrombocytopaenia immunodeficiency Hypogammaglobulinaemia decrease B-cells decrease B-cell differentiation decrease memory B/T cells Low Ig pneumocystis early CID onset Immune dysregulation Tags
Green List (high evidence)	IKZF2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency, MONDO:0021094, IKZF2-related Immune dysregulation nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related Tags
Green List (high evidence)	IKZF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency 84, MIM# 619437 Tags
Green List (high evidence)	IKZF5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Thrombocytopaenia 7, MIM#619130 Tags
Green List (high evidence)	IL10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diseases of Immune Dysregulation Early-onset inflammatory bowel disease Tags
Green List (high evidence)	IL10RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 Tags
Green List (high evidence)	IL10RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 Tags
Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis and dental anomalies, MIM# 614188 Tags
Green List (high evidence)	IL12B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 29, mycobacteriosis, MIM# 614890 Tags
Green List (high evidence)	IL12RB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 30, MIM# 614891 Tags
Green List (high evidence)	IL17RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 51, MIM# 613953 MONDO:0013500 Tags
Green List (high evidence)	IL17RC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 9, MIM# 616445 MONDO:0014642 Tags
Green List (high evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 21 MIM#300143 Tags
Green List (high evidence)	IL1RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interleukin 1 receptor antagonist deficiency, MIM# 612852 Tags
Green List (high evidence)	IL21R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 56, MIM# 615207 Tags
Green List (high evidence)	IL23R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency disease, MONDO:0021094 Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related Tags
Green List (high evidence)	IL2RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367 Tags
Green List (high evidence)	IL2RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections Tags treatable
Green List (high evidence)	IL2RG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, X-linked, moderate MIM# 312863 Severe combined immunodeficiency, X-linked MIM# 300400 recurrent viral/fungal/bacterial infections Low T/NK cells Low Ig levels lymphocytopaenia hypogammaglobulinaemia failure to thrive diarrhoea Pneumonia Thymic hypoplasia Tags
Green List (high evidence)	IL36RN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Psoriasis 14, pustular, MIM# 614204 Autoinflammatory syndrome, MONDO:0019751, IL36RN-related Tags
Green List (high evidence)	IL6ST	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523 Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, MIM# 619752 Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750 Tags
Green List (high evidence)	IL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined immunodeficiency, MONDO:0015131, IL7-related Tags
Green List (high evidence)	IL7R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes severe combined immunodeficiency 104 MIM#608971 Tags
Green List (high evidence)	ILDR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 42, MIM# 609646 Tags
Green List (high evidence)	IMPAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrodysplasia with joint dislocations, GPAPP type MIM#614078 Tags
Green List (high evidence)	IMPDH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 11 (MIM# 613837) Retinitis pigmentosa 10 (MIM# 180105) Tags
Green List (high evidence)	IMPDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dystonia Tags
Green List (high evidence)	IMPG1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macular dystrophy, vitelliform, 4, OMIM:616151 Retinitis pigmentosa, MONDO:0019200 Retinitis pigmentosa 91, MIM# 153870 Tags
Green List (high evidence)	IMPG2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 56, MIM#613581 Macular dystrophy, vitelliform, 5, MIM# 616152 Tags
Green List (high evidence)	INF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455 Glomerulosclerosis, focal segmental, 5, MIM# 613237 Tags
Green List (high evidence)	INPP4A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Tags
Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156 MONDO:0012423 Tags
Green List (high evidence)	INPP5K	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404 Tags
Green List (high evidence)	INPPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Opsismodysplasia MIM#258480 Tags
Green List (high evidence)	INS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, insulin-dependent, 2, MIM# 125852 Diabetes mellitus, permanent neonatal 4, MIM# 618858 Maturity-onset diabetes of the young, type 10, MIM# 613370 Tags
Green List (high evidence)	INSR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968 Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190 Tags
Green List (high evidence)	INTS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Tags
Green List (high evidence)	INTS11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Tags
Green List (high evidence)	INTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oral-facial-digital syndrome, MONDO:0015375, INTS13-related Tags
Green List (high evidence)	INTU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Orofaciodigital syndrome XVII MIM#617926 ?Short-rib thoracic dysplasia 20 with polydactyly Tags
Green List (high evidence)	INVS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 2, infantile, (MIM#602088) Tags
Green List (high evidence)	IPO8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Green List (high evidence)	IQCB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 5, MIM# 609254 MONDO:0012225 Tags
Green List (high evidence)	IQCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Postaxial polydactyly Tags
Green List (high evidence)	IQSEC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687 Tags
Green List (high evidence)	IQSEC2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 Tags
Green List (high evidence)	IRAK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 67, MIM# 607676 Tags
Green List (high evidence)	IREB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Tags
Green List (high evidence)	IRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668 Tags
Green List (high evidence)	IRF2BP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, common variable, 14, MIM# 617765 Tags
Green List (high evidence)	IRF2BPL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 Tags
Green List (high evidence)	IRF4	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, MONDO:0015131, IRF4-related Tags
Green List (high evidence)	IRF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Popliteal pterygium syndrome 1MIM#119500 van der Woude syndrome MIM#119300 Tags
Green List (high evidence)	IRF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 39, MIM# 616345 Tags
Green List (high evidence)	IRF8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Tags
Green List (high evidence)	IRS4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 Tags
Green List (high evidence)	IRX5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hamamy syndrome, MIM# 611174 cone dystrophy, MONDO:0000455 Tags SV/CNV
Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green List (high evidence)	ISCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Tags
Green List (high evidence)	ISCU	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags deep intronic founder
Green List (high evidence)	ISG15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 38, MIM# 616126 Tags
Green List (high evidence)	ISPD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags SV/CNV
Green List (high evidence)	ITCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 Tags founder
Green List (high evidence)	ITFG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental abnormality Intellectual disability Developmental regression Ataxia Tags
Green List (high evidence)	ITGA2B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 16, MIM# 187800 MONDO:000855 Glanzmann thrombasthaenia 1, MIM# 273800 Tags
Green List (high evidence)	ITGA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green List (high evidence)	ITGA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730 Tags
Green List (high evidence)	ITGA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Tags
Green List (high evidence)	ITGA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal hypodysplasia/aplasia 1, MIM# 191830 Tags
Green List (high evidence)	ITGB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukocyte adhesion deficiency, MIM# 116920 Tags
Green List (high evidence)	ITGB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 24, MIM#619271 MONDO:0008552 Tags
Green List (high evidence)	ITGB4	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa of hands and feet, MIM# 131800 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 Tags
Green List (high evidence)	ITGB6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Amelogenesis imperfecta, type IH, MIM# 616221 Tags
Green List (high evidence)	ITK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 1 MIM# 613011 Lymphadenopathy Recurrent infections Hypogammaglobulinaemia Evidence of EBV infection EBV associated B cell Lymphoproliferation High EBV viral load Normal-low serum Ig Depleted CD4+ T cells Anaemia Thrombocytopaenia Hepatosplenomegaly Tags
Green List (high evidence)	ITPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Inosine triphosphatase deficiency MIM#613850 Developmental and epileptic encephalopathy 35 MIM#616647 Tags
Green List (high evidence)	ITPR1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, MIM# 206700 Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green List (high evidence)	ITPR3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111 Combined immunodeficiency, MONDO:0015131, ITPR3-related Tags
Green List (high evidence)	ITSN1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome Neurodevelopmental disorder MONDO:0700092, ITSN1-related Tags
Green List (high evidence)	ITSN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome Tags
Green List (high evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Isovaleric acidaemia, MIM# 243500 Tags treatable
Green List (high evidence)	IVNS1ABP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 70, MIM#618969 Tags
Green List (high evidence)	IYD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid dyshormonogenesis 4, MIM# 274800 Tags
Green List (high evidence)	JAG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Alagille syndrome 1, MIM# 118450 Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574 Tags
Green List (high evidence)	JAG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566 muscular dystrophy Tags
Green List (high evidence)	JAGN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022 Tags
Green List (high evidence)	JAK1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Eosinophilia Eosinophilic enteritis Thyroid disease Poor growth Viral infections Susceptibility to mycobacteria and viruses Tags
Green List (high evidence)	JAK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SCID, autosomal recessive, T-negative/B-positive type MIM# 600802 Tags treatable
Green List (high evidence)	JAM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary brain calcification Tags
Green List (high evidence)	JAM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Tags
Green List (high evidence)	JARID2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098 Tags
Green List (high evidence)	JMJD1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual disability (MONDO#0001071), JMJD1C-related Tags
Green List (high evidence)	JPH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Congenital myopathy 25, MIM# 620964 Tags
Green List (high evidence)	JUP	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214 Tags
Green List (high evidence)	KANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar keratoderma and woolly hair (MIM#616099) Nephrotic syndrome, type 16, MIM#617783 Tags
Green List (high evidence)	KANSL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Koolen-De Vries syndrome (MIM#610443) Tags SV/CNV
Green List (high evidence)	KARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Deafness, autosomal recessive 89, MIM# 613916 Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196 Tags
Green List (high evidence)	KAT5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green List (high evidence)	KAT6A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arboleda-Tham syndrome MIM#616268 Tags
Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SBBYSS syndrome MIM#603736 Genitopatellar syndrome MIM#606170 KAT6B-related multiple congenital anomalies syndrome MONDO:0036042 Tags
Green List (high evidence)	KAT8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures autism dysmorphic features Li-Ghorbani-Weisz syndrome, MIM#618974 Tags
Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 6, with microcephaly, MIM# 616212 Tags
Green List (high evidence)	KBTBD13	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 6, autosomal dominant, MIM# 609273 Hereditary motor neuropathy late-onset limb girdle muscular dystrophy Tags
Green List (high evidence)	KBTBD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KBTBD2-related Tags
Green List (high evidence)	KCNA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia/myokymia syndrome, MIM# 160120 Epilepsy, MONDO:0005027, KCNA1-related Tags
Green List (high evidence)	KCNA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Early infantile encephalopathy 32, MIM#616366 Tags
Green List (high evidence)	KCNA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNA3-related Tags
Green List (high evidence)	KCNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 26, MIM# 616056 Tags
Green List (high evidence)	KCNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KCNB2-related Tags
Green List (high evidence)	KCNC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 7 (MIM#616187) Intellectual disability Movement disorders Tags
Green List (high evidence)	KCNC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 103, MIM# 619913 Tags
Green List (high evidence)	KCNC3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13, MIM# 605259 Tags
Green List (high evidence)	KCND1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KCND1-related Tags
Green List (high evidence)	KCND2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 global developmental delay, HP:0001263 seizure, HP:0001250 Tags
Green List (high evidence)	KCND3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green List (high evidence)	KCNH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green List (high evidence)	KCNH5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 112, MIM# 620537 Tags
Green List (high evidence)	KCNJ1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 2, 241200 Tags
Green List (high evidence)	KCNJ10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SESAME syndrome, MIM# 612780 Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related Tags
Green List (high evidence)	KCNJ11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Diabetes mellitus, type 2, susceptibility to} 125853 Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Maturity-onset diabetes of the young, type 13 616329 AD Tags
Green List (high evidence)	KCNJ13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 16 MIM#614186 Snowflake vitreoretinal degeneration, MIM# 193230 Tags
Green List (high evidence)	KCNJ16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, KCNJ16-related Renal tubulopathy deafness Tags
Green List (high evidence)	KCNJ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Andersen syndrome MIM#170390 Atrial fibrillation, familial, 9 MIM#613980 Short QT syndrome 3 MIM#609622 Tags
Green List (high evidence)	KCNJ5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Hyperaldosteronism, familial, type III, MIM# 613677 Tags
Green List (high evidence)	KCNJ6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keppen-Lubinsky syndrome, MIM# 614098 MONDO:0013572 Tags
Green List (high evidence)	KCNJ8	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cantú Syndrome Tags disputed
Green List (high evidence)	KCNK18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656 Tags
Green List (high evidence)	KCNK3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, primary, 4 MIM#615344 Neurodevelopmental disorder, MONDO:0700092, KCNK3-related Tags
Green List (high evidence)	KCNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 Tags
Green List (high evidence)	KCNK9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Birk-Barel syndrome, MIM# 612292 MONDO:0012856 Tags
Green List (high evidence)	KCNMA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Liang-Wang syndrome, MIM# 618729 Tags
Green List (high evidence)	KCNN2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green List (high evidence)	KCNN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Zimmermann-Laband syndrome 3 MIM#618658 Tags
Green List (high evidence)	KCNN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Dehydrated hereditary stomatocytosis 2, MIM# 616689 Tags
Green List (high evidence)	KCNQ2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 7, 613720 Seizures, benign neonatal, 1, 121200 Myokymia, 121200 Tags
Green List (high evidence)	KCNQ3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, benign neonatal, 2, MIM# 121201 Tags
Green List (high evidence)	KCNQ4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 2A, MIM# 600101 Tags
Green List (high evidence)	KCNQ5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 46, MIM# 617601 Tags
Green List (high evidence)	KCNT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 5, MIM# 615005 Epileptic encephalopathy, early infantile, 14, MIM# 614959 Tags
Green List (high evidence)	KCNT2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 57, MIM#617771 Developmental and epileptic encephalopathy Epilepsy of infancy with migrating focal seizures (EIMFS) Tags
Green List (high evidence)	KCNV2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinal cone dystrophy 3B, MIM# 610356 Tags
Green List (high evidence)	KCTD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Scalp-ear-nipple syndrome MIM#181270 Tags
Green List (high evidence)	KCTD17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 26, myoclonic MIM#616398 Tags
Green List (high evidence)	KCTD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy Intellectual disability Posterior fossa abnormalities Tags
Green List (high evidence)	KCTD7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) Tags
Green List (high evidence)	KDELR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta 21, MIM# 619131 Increased susceptibility to fractures joint hypermobility Scoliosis Bowing of the legs Bowing of the arms Tags
Green List (high evidence)	KDM1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features 616728 Multiple myeloma Tags
Green List (high evidence)	KDM2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, KDM2A-related Tags
Green List (high evidence)	KDM2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, KDM2B-related Tags
Green List (high evidence)	KDM3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Diets-Jongmans syndrome, MIM# 618846 Intellectual disability dysmorphic features short stature Tags
Green List (high evidence)	KDM4B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 65, MIM# 619320 Global developmental delay, intellectual disability and neuroanatomical defects Tags
Green List (high evidence)	KDM5A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820 Neurodevelopmental disorder MONDO:0700092, KDM5A-related Tags
Green List (high evidence)	KDM5B	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 65 MIM#618109 Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant Tags
Green List (high evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green List (high evidence)	KDM6A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 2, 300867 Tags
Green List (high evidence)	KDM6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MIM#618505 Tags
Green List (high evidence)	KDR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension Haemangioma, capillary infantile, somatic 602089 Tetralogy of Fallot, MONDO:0008542 Tags
Green List (high evidence)	KDSR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrokeratodermia variabilis et progressiva 4, MIM# 617526 severe thrombocytopaenia Tags
Green List (high evidence)	KERA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornea plana 2, autosomal recessive, MIM# 217300 Tags
Green List (high evidence)	KHDC3L	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydatiform mold recurrent 2, MIM#614293 Tags
Green List (high evidence)	KHDRBS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure Tags
Green List (high evidence)	KIAA0391	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 54, MIM# 619737 Tags new gene name
Green List (high evidence)	KIAA0556	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 26, MIM# 616784 Tags new gene name
Green List (high evidence)	KIAA0586	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Joubert syndrome 23, MIM# 616490 Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 Tags
Green List (high evidence)	KIAA0753	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XV, MIM# 617127 Joubert syndrome 38, MIM# 619476 Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479 Tags
Green List (high evidence)	KIAA0825	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A10, MIM# 618498 Tags
Green List (high evidence)	KIAA1024L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 120, OMIM:620238 Tags new gene name
Green List (high evidence)	KIAA1109	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alkuraya-Kucinskas syndrome, MIM# 617822 Tags
Green List (high evidence)	KIAA1161	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Basal ganglia calcification, idiopathic, 7, MIM #618317 primary familial brain calcifications (PFBC) ataxia dysarthria cerebellar atrophy akinetic-hypertonic syndrome Tags new gene name
Green List (high evidence)	KIDINS220	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 Ventriculomegaly and arthrogryposis, MIM# 619501 Tags
Green List (high evidence)	KIF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green List (high evidence)	KIF12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 8, MIM# 619662 Tags
Green List (high evidence)	KIF14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 20, primary, autosomal recessive, MIM# 617914 Meckel syndrome 12, MIM# 616258 Tags
Green List (high evidence)	KIF1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory, type IIC, MIM# 614213 NESCAV syndrome, MIM# 614255 Spastic paraplegia 30, autosomal dominant MIM# 610357 Spastic paraplegia 30, autosomal recessive 620607 Tags
Green List (high evidence)	KIF1BP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags new gene name
Green List (high evidence)	KIF1C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 2, autosomal recessive, MIM# 611302 Tags
Green List (high evidence)	KIF21A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 Tags
Green List (high evidence)	KIF21B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Global developmental delay Intellectual disability Abnormality of brain morphology Microcephaly Tags
Green List (high evidence)	KIF22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546 Tags
Green List (high evidence)	KIF26A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Tags
Green List (high evidence)	KIF2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Tags
Green List (high evidence)	KIF4A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 100 MIM#300923 Taurodontism, microdontia, and dens invaginatus MIM#313490 Tags
Green List (high evidence)	KIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy Spastic paraplegia 10, autosomal dominant, MIM# 604187 Myoclonus, intractable, neonatal, MIM# 617235 Tags
Green List (high evidence)	KIF5B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes osteogenesis imperfecta, MONDO:0019019 Skeletal dysplasia, MONDO:0018230, KIF5B-related Kyphomelic dysplasia Tags
Green List (high evidence)	KIF5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Tags
Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 12, MIM# 200990 Acrocallosal syndrome, MIM# 200990 MONDO:0008708 Hydrolethalus syndrome 2, MIM# 614120 Tags
Green List (high evidence)	KISS1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837) Tags
Green List (high evidence)	KIT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764 Mastocytosis, cutaneous, MIM# 154800 Tags
Green List (high evidence)	KITLG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 deafness heterochromia iridis hypopigmentation of the skin hyperpigmentation of the skin Waardenburg syndrome,MONDO:0018094, KITLG-related Tags
Green List (high evidence)	KIZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 69, MIM# 615780 Tags
Green List (high evidence)	KLB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypogonadotropic hypogonadism Tags
Green List (high evidence)	KLC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Tags SV/CNV
Green List (high evidence)	KLF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 MONDO:0013355 Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Tags
Green List (high evidence)	KLF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related Tags
Green List (high evidence)	KLF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Tags
Green List (high evidence)	KLHL20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), KLHL20-related Tags
Green List (high evidence)	KLHL24	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294 dilated cardiomyopathy Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236 Tags
Green List (high evidence)	KLHL3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudohypoaldosteronism, type IID, MIM# 614495 Tags
Green List (high evidence)	KLHL40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags founder
Green List (high evidence)	KLHL41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 9, MIM# 615731 Tags
Green List (high evidence)	KLHL7	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PERCHING syndrome (MIM#617055) Retinitis pigmentosa 42 (MIM#612943) Tags
Green List (high evidence)	KLK11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ichthyosis with erythrokeratoderma, MIM# 620507 Tags
Green List (high evidence)	KLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IIA1, MIM# 204700 Tags
Green List (high evidence)	KMT2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wiedemann-Steiner syndrome, MIM# 605130 AD Tags
Green List (high evidence)	KMT2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 28, childhood-onset 617284 MONDO:0015004 Tags
Green List (high evidence)	KMT2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kleefstra syndrome 2, MIM#617768 Tags
Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 1, MIM# 147920 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186 Tags
Green List (high evidence)	KMT2E	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes O'Donnell-Luria-Rodan syndrome, MIM# 618512 Tags
Green List (high evidence)	KMT5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 51 Tags
Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 4, primary, autosomal recessive, MIM# 604321 MONDO:0011437 Tags
Green List (high evidence)	KPNA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spastic paraplegia-88 (SPG88), MIM#620106 Tags
Green List (high evidence)	KPTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 41 (MIM#615637) Tags
Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 2 615278 Noonan syndrome 3 609942 RAS-associated autoimmune leukoproliferative disorder 614470 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200 Tags
Green List (high evidence)	KRIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cavernous malformations of CNS and retina, 116860 Cerebral cavernous malformations-1, 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Tags founder
Green List (high evidence)	KRT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolytic hyperkeratosis, MIM#113800 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602 Ichthyosis histrix, Curth-Macklin type, MIM# 146590 Palmoplantar keratoderma, epidermolytic, MIM# 144200 Palmoplantar keratoderma, nonepidermolytic, MIM# 600962 Tags
Green List (high evidence)	KRT10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolytic hyperkeratosis, MIM#113800 Ichthyosis with confetti, MIM#609165 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602 Tags
Green List (high evidence)	KRT12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meesmann corneal dystrophy 1, MIM# 122100 Tags
Green List (high evidence)	KRT13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes White sponge nevus 2, MIM# 615785 Tags
Green List (high evidence)	KRT14	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 Dermatopathia pigmentosa reticularis, 125595 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 Epidermolysis bullosa simplex, Koebner type, 131900 Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 Naegeli-Franceschetti-Jadassohn syndrome, 161000 Tags
Green List (high evidence)	KRT16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200) Tags
Green List (high evidence)	KRT17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500 Tags
Green List (high evidence)	KRT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Superficial epidermolytic ichthyosis (SEI) (MIM#146800) Tags
Green List (high evidence)	KRT25	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Woolly hair, autosomal recessive 3 MIM#616760 Tags
Green List (high evidence)	KRT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meesmann corneal dystrophy 2, MIM# 618767 Tags
Green List (high evidence)	KRT4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes White sponge naevus 1, MIM# 193900 Tags
Green List (high evidence)	KRT5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease 1, MIM# 179850 Epidermolysis bullosa simplex-MCR, MIM# 609352 Epidermolysis bullosa simplex-MP 131960 Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760 Epidermolysis bullosa simplex, Koebner type, MIM# 131900 Epidermolysis bullosa simplex, recessive 1, MIM# 601001 Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800 Tags
Green List (high evidence)	KRT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pachyonychia congenita 3 (MIM#615726) Tags
Green List (high evidence)	KRT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pachyonychia congenita 4 (MIM#615728) Tags
Green List (high evidence)	KRT6C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735) Tags
Green List (high evidence)	KRT81	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Monilethrix, MIM# 158000 Tags
Green List (high evidence)	KRT85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 4, hair/nail type MIM#602032 Tags
Green List (high evidence)	KRT86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Monilethrix, MIM# 158000 Tags
Green List (high evidence)	KRT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar keratoderma, epidermolytic (MIM#144200) Tags
Green List (high evidence)	KY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 7, MIM#617114 Tags
Green List (high evidence)	KYNU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hydroxykynureninuria MIM#236800 Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661 Disorders of histidine, tryptophan or lysine metabolism Tags
Green List (high evidence)	L1CAM	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000 MASA syndrome, MIM# 303350 L1 syndrome, MONDO:0017140 Corpus callosum, partial agenesis of, MIM# 304100 Tags
Green List (high evidence)	L2HGDH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Green List (high evidence)	LACC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Juvenile arthritis MIM#618795 Tags
Green List (high evidence)	LAGE3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Tags
Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Poretti Boltshauser syndrome MIM#615960 Tags
Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green List (high evidence)	LAMA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional 2A, intermediate MIM#619783 Epidermolysis bullosa, junctional 2B, severe MIM#619784 Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660 Tags
Green List (high evidence)	LAMA5	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bent bone dysplasia syndrome 2, MIM# 620076 nephrotic syndrome Presynaptic congenital myasthenic syndrome multisystem syndrome developmental delay Tags
Green List (high evidence)	LAMB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 5, MIM# 615191 Cystic leukoencephalopathy Adult-onset leukoencephalopathy Tags
Green List (high evidence)	LAMB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pierson syndrome, MIM# 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Tags
Green List (high evidence)	LAMB3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IA, MIM# 104530 Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Tags
Green List (high evidence)	LAMC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Tags
Green List (high evidence)	LAMC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical malformations, occipital, MIM#614115 Tags
Green List (high evidence)	LAMP2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Danon disease, MIM# 300257 MONDO:0010281 Tags
Green List (high evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, MIM# 613154 Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840 Tags
Green List (high evidence)	LARP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder MONDO:0700092 Tags
Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alazami syndrome, MIM# 615071 Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Tags
Green List (high evidence)	LARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Seizures Intellectual disability Encephalopathy Tags new gene name
Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy Tags
Green List (high evidence)	LAS1L	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilson-Turner syndrome, MIM# 309585 Tags
Green List (high evidence)	LAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 52, MIM# 617514 Tags
Green List (high evidence)	LBR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Greenberg skeletal dysplasia, MIM# 215140 Tags
Green List (high evidence)	LCA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber Congenital Amaurosis 5, MIM# 604537 Tags
Green List (high evidence)	LCAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900 Fish-Eye disease, MIM# 136120 Tags
Green List (high evidence)	LCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 22 MIM# 615758 Recurrent infections Immune dysregulation autoimmunity Low CD4+ low CD8+ restricted T cell repertoire poor TCR signaling Normal IgG/IgA high IgM failure to thrive diarrhoea lymphopaenia hypogammaglobulinaemia anaemia thrombocytopaenia CD4+ T-cell lymphopaenia Tags
Green List (high evidence)	LCP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 81, MIM# 619374 Severe combined immunodeficiency Tags
Green List (high evidence)	LCT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Lactase deficiency, congenital, MIM# 223000 Tags
Green List (high evidence)	LDB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hydrocephalus MONDO:0016349 Tags
Green List (high evidence)	LDB3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493 Cardiomyopathy, hypertrophic, 24 MIM#601493 Left ventricular noncompaction 3 MIM#601493 Myopathy, myofibrillar, 4 MIM#609452 Tags
Green List (high evidence)	LDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XI, MIM# 612933 Tags SV/CNV
Green List (high evidence)	LDLRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypercholesterolemia, familial, 4, MIM# 603813 Tags
Green List (high evidence)	LEF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease, MONDO:0002254, LEF1-related Tags
Green List (high evidence)	LEMD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Buschke-Ollendorff syndrome MIM#166700 Osteopoikilosis with or without melorheostosis MIM#166700 Tags
Green List (high evidence)	LEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Obesity, morbid, due to leptin deficiency (MIM#614962) Tags
Green List (high evidence)	LEPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Obesity, morbid, due to leptin receptor deficiency (MIM#614963) Tags clinical trial treatable
Green List (high evidence)	LETM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green List (high evidence)	LFNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 Tags
Green List (high evidence)	LGI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial temporal lobe, 1, MIM# 6000512 Tags
Green List (high evidence)	LGI3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, LGI3-related Global developmental delay Intellectual disability Distal deformities Diminished reflexes Facial myokymia Hyporeflexia/areflexi Tags
Green List (high evidence)	LGI4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 Tags
Green List (high evidence)	LHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300 Tags
Green List (high evidence)	LHCGR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Luteinizing hormone resistance, female, (MIM#238320) Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320) Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320) Precocious puberty, male, (MIM#176410) Tags
Green List (high evidence)	LHFPL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 67, MIM# 610265 Tags
Green List (high evidence)	LHX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO: 0700092) Tags
Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 3, MIM# 221750 Tags treatable
Green List (high evidence)	LHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 4, MIM# 262700 Tags treatable
Green List (high evidence)	LIAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 Tags
Green List (high evidence)	LIFR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559 CAKUT Tags
Green List (high evidence)	LIG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Immunodeficiency 96, MIM# 619774 Lymphopaenia Hypogammaglobulinaemia Recurrent bacterial and viral infections Growth retardation Sun sensitivity, radiation sensitivity Macrocytosis Tags
Green List (high evidence)	LIG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green List (high evidence)	LIG4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags treatable
Green List (high evidence)	LIM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 19, multiple types, MIM# 615277 Tags
Green List (high evidence)	LINC01578	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, MIM# 621012 Tags new gene name SV/CNV
Green List (high evidence)	LINGO4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental Delay, Intellectual disability, speech disorder Tags
Green List (high evidence)	LINS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 27, MIM# 614340 Tags
Green List (high evidence)	LIPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Lysosomal acid lipase deficiency, MONDO:0010204 Tags treatable
Green List (high evidence)	LIPC	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hepatic lipase deficiency MIM#614025 Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533 Tags
Green List (high evidence)	LIPE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lipodystrophy, familial partial, type 6, 615980 Tags
Green List (high evidence)	LIPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379 Hypotrichosis 7, MIM# 604379 Tags
Green List (high evidence)	LIPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Leigh-like presentation Tags
Green List (high evidence)	LIPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Tags
Green List (high evidence)	LITAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1C, MIM# 601098 MONDO:0010995 Tags
Green List (high evidence)	LMAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined factor V and VIII deficiency, MIM# 227300 MONDO:0009206 Tags
Green List (high evidence)	LMBR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Laurin-Sandrow syndrome, MIM# 135750 Polydactyly, preaxial type II 174500 Triphalangeal thumb, type I, MIM# 174500 Syndactyly, type IV, MIM# 186200 Acheiropody, MIM# 200500 Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500 Hypoplastic or aplastic tibia with polydactyly, MIM# 188740 Tags
Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380 Tags treatable
Green List (high evidence)	LMBRD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay with variable neurologic and brain abnormalities, MIM# 619694 Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags
Green List (high evidence)	LMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipase deficiency, combined, MIM# 246650 Tags
Green List (high evidence)	LMNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 26, primary, autosomal dominant, MIM# 619179 Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500 Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061 Tags SV/CNV
Green List (high evidence)	LMNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Lipodystrophy, partial, acquired, susceptibility to} 608709 Microcephaly 27, primary, autosomal dominant, MIM# 619180 Congenital microcephaly, Intellectual disability Tags
Green List (high evidence)	LMOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags
Green List (high evidence)	LMOD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 10, MIM# 616165 Tags
Green List (high evidence)	LMX1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 7 MIM#601412 non-syndromic hearing loss Tags
Green List (high evidence)	LMX1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome (MIM#161200), MONDO:0008061 LMX1B-related nephropathy Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 Tags
Green List (high evidence)	LNPK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Tags
Green List (high evidence)	LONP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CODAS syndrome, MIM#600373 Mitochondrial cytopathy Tags
Green List (high evidence)	LOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vohwinkel syndrome with ichthyosis, MIM# 604117 Tags
Green List (high evidence)	LOX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 10, MIM# 617168 Tags
Green List (high evidence)	LOXHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 77, MIM# 613079 Tags
Green List (high evidence)	LPAR6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239 Tags
Green List (high evidence)	LPIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200 Tags
Green List (high evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Majeed syndrome, MIM# 609628 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia Tags
Green List (high evidence)	LPL	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined hyperlipidemia, familial, MIM# 144250 Lipoprotein lipase deficiency, MIM# 238600 Tags
Green List (high evidence)	LRAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 14 MIM#613341 Retinal dystrophy, early-onset severe MIM#613341 Retinitis pigmentosa, juvenile MIM#613341 Tags
Green List (high evidence)	LRBA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Normal-decreased CD4 numbers T cell dysregulation Low-normal B cells Reduced IgG and IgA Recurrent infections chronic diarrhoea inflammatory bowel disease hypogammaglobulinaemia pneumonitis autoimmune disorders thrombocytopaenia Tags
Green List (high evidence)	LRIG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Urofacial syndrome 2, MIM# 615112 Tags
Green List (high evidence)	LRIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058 Tags
Green List (high evidence)	LRMDA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type VII, MIM# 615179 MONDO:0014070 Tags
Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, MIM# 222448 Tags
Green List (high evidence)	LRP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cenani-Lenz syndactyly syndrome (MIM#212780) Myasthenic syndrome, congenital, 17, MIM# 616304 Sclerosteosis 2, MIM# 614305 Syndactyly Tags
Green List (high evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 4, MIM# 601813 Osteopetrosis, autosomal dominant 1, MIM# 607634 Osteoporosis-pseudoglioma syndrome, MIM# 259770 Osteosclerosis, MIM# 144750 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 Tags
Green List (high evidence)	LRP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tooth agenesis, selective, 7, MIM# 616724 Tags
Green List (high evidence)	LRPPRC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 Tags
Green List (high evidence)	LRRC56	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ciliary dyskinesia, primary, 39 618254 Tags
Green List (high evidence)	LRRC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 19, MIM# 614935 Tags
Green List (high evidence)	LRRC7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Other Phenotypes neurodevelopmental disorder (MONDO:0700092), LRRC7-related Tags
Green List (high evidence)	LRRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198) Tags
Green List (high evidence)	LRSAM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436 MONDO:0013753 Tags
Green List (high evidence)	LRTOMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 63, MIM# 611451 Tags
Green List (high evidence)	LSS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cataract 44, OMIM #616509 Hypotrichosis 14, OMIM #618275 Intellectual disability Tags
Green List (high evidence)	LTBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IIE MIM#619451 Tags
Green List (high evidence)	LTBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glaucoma 3, primary congenital, D 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750 Tags
Green List (high evidence)	LTBP3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dental anomalies and short stature, MIM# 601216 Geleophysic dysplasia 3, MIM# 617809 Thoracic aneurysm Tags
Green List (high evidence)	LTBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IC, MIM# 613177 Tags
Green List (high evidence)	LYN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Tags
Green List (high evidence)	LYRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Tags
Green List (high evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chediak-Higashi syndrome, MIM# 214500 Tags treatable
Green List (high evidence)	LYZ	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, renal, MIM# 105200 Amyloidosis, hereditary systemic 5, MIM# 620658 Tags
Green List (high evidence)	LZTFL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 17 (MIM#615994) Tags
Green List (high evidence)	M1AP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 48, MIM# 619108 non-obstructive azoospermia (NOA) severe spermatogenic failure male infertility Tags
Green List (high evidence)	MAB21L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome #MIM 618479 Tags
Green List (high evidence)	MAB21L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Tags
Green List (high evidence)	MACF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lissencephaly 9 with complex brainstem malformation, MIM# 618325 Tags
Green List (high evidence)	MADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities) Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005 Tags
Green List (high evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ayme-Gripp syndrome (MIM#601088) Tags
Green List (high evidence)	MAFB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multicentric carpotarsal osteolysis syndrome (MIM#166300) Duane retraction syndrome 3, MIM# 617041 Tags
Green List (high evidence)	MAG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 75, autosomal recessive, MIM# 616680 Cerebellar ataxia Tags
Green List (high evidence)	MAGED2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 5, antenatal, transient, MIM# 300971 Tags
Green List (high evidence)	MAGEL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schaaf-Yang syndrome, MIM# 615547 Tags
Green List (high evidence)	MAGI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 15, MIM# 617609 Tags
Green List (high evidence)	MAGT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Icc (MIM# 301031) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) Tags
Green List (high evidence)	MAK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 62, MIM# 614181 Tags
Green List (high evidence)	MALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 12 MIM# 615468 poor T-cell proliferation normal T/B cell numbers poor specific antibody response recurrent bacterial/fungal/viral infections bronchiectasis failure to thrive Tags
Green List (high evidence)	MAMLD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypospadias 2 (MIM#300758) Tags
Green List (high evidence)	MAN1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 15, MIM#614202 Tags
Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green List (high evidence)	MAN2C1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of deglycosylation 2, MIM# 619775 Tags
Green List (high evidence)	MANBA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, beta, MIM# 248510 MONDO:0009562 Nystagmus, autosomal dominant Tags
Green List (high evidence)	MAOA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brunner syndrome, MIM# 300615 Tags
Green List (high evidence)	MAP1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Brain Malformations Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability seizures PVNH dysmorphic features Periventricular nodular heterotopia 9, MIM# 618918 Deafness, autosomal dominant 83, MIM# 619808 Tags
Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Green List (high evidence)	MAP3K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 46XY sex reversal 6 (MIM#613762) Tags
Green List (high evidence)	MAP3K14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 112, MIM# 620449 NIK deficiency Poor T cell proliferation to antigen Low B-cell numbers Low NK number and function recurrent bacterial/viral/ cryptosporidium infections hypogammaglobulinaemia decreased immunoglobulin levels Tags
Green List (high evidence)	MAP3K20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Syndromic disease, MONDO:0002254, MAP3K20-related Centronuclear myopathy 6 with fiber-type disproportion MIM#617760 Split-foot malformation with mesoaxial polydactyly MIM#616890 Tags
Green List (high evidence)	MAP3K3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cerebral cavernous malformations 5, MIM# 621032 Tags somatic
Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiospondylocarpofacial syndrome 157800 AD Frontometaphyseal dysplasia 2 617137 AD Tags
Green List (high evidence)	MAP4K4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MAPK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan syndrome 13, MIM#619087 Global developmental delay Intellectual disability Behavioral abnormality Growth delay Abnormality of the face Abnormality of the neck Abnormality of the cardiovascular system Abnormality of the skin Tags
Green List (high evidence)	MAPK8IP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Tags
Green List (high evidence)	MAPKAPK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurocardiofaciodigital syndrome, MIM# 619869 Tags
Green List (high evidence)	MAPKBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 20, MIM# 617271 MONDO:0014997 Tags
Green List (high evidence)	MAPRE2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Symmetric circumferential skin creases, congenital, 2, MIM# 616734 Tags
Green List (high evidence)	MARK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 Tags
Green List (high evidence)	MARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung and liver disease, MIM#615486 Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280 Trichothiodystrophy 9, nonphotosensitive, MIM# 619692 Spastic paraplegia 70, autosomal recessive, MIM# 620323 Tags new gene name
Green List (high evidence)	MARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390 Tags
Green List (high evidence)	MARVELD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 49, MIM# 610153 Tags
Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770 Tags
Green List (high evidence)	MAST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations OMIM #618273 Tags
Green List (high evidence)	MAST3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 108, MIM#620115 Tags
Green List (high evidence)	MAST4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, MAST4-related Tags
Green List (high evidence)	MAT1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850 Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Disorders of the metabolism of sulphur amino acids Tags
Green List (high evidence)	MATN3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728) Epiphyseal dysplasia, multiple, 5 (MIM#607078) Tags
Green List (high evidence)	MATR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 21, MIM# 606070 Distal myopathy Tags
Green List (high evidence)	MAX	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Pheochromocytoma, susceptibility to}, MIM# 171300 Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Green List (high evidence)	MB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Myopathy, sarcoplasmic body MIM#620286 Tags
Green List (high evidence)	MBD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 1, MIM# 156200 MONDO:0007974 Tags SV/CNV
Green List (high evidence)	MBOAT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes intellectual disability MIM#617188 Tags
Green List (high evidence)	MBTPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Skeletal dysplasia Tags
Green List (high evidence)	MBTPS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIX, (MIM301014) IFAP syndrome with or without BRESHECK syndrome (MIM#308205) Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800) Olmsted syndrome, X-linked (MIM#300918) Tags
Green List (high evidence)	MC2R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200 Tags treatable
Green List (high evidence)	MC4R	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Obesity, resistence to (BMIQ20)} 618306 Obesity (BMIQ20) 618406 AD, AR Tags
Green List (high evidence)	MCCC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Organic acidurias Tags
Green List (high evidence)	MCCC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Organic acidurias Tags
Green List (high evidence)	MCEE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonyl-CoA epimerase deficiency MIM#251120 Organic acidurias Tags
Green List (high evidence)	MCFD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor V and factor VIII, combined deficiency of, MIM# 613625 MONDO:0013331 Tags
Green List (high evidence)	MCIDAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 42 (MIM#618695) Tags
Green List (high evidence)	MCM3AP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124 Tags
Green List (high evidence)	MCM6	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, MCM6-related Lactase persistence/nonpersistence 223100 Tags
Green List (high evidence)	MCM8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Premature ovarian failure 10, MIM# 612885 Tags
Green List (high evidence)	MCM9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ovarian dysgenesis 4, MIM# 616185 Hereditary neoplastic syndrome MONDO:0015356 Tags
Green List (high evidence)	MCOLN1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis IV, MIM# 252650 MONDO:0009653 Lisch epithelial corneal dystrophy, OMIM# 620763 Tags SV/CNV
Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617 Tags
Green List (high evidence)	MCTS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 118, mycobacteriosis, MIM# 301115 Tags
Green List (high evidence)	MDFIC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 12, MIM# 620014 Tags
Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green List (high evidence)	MECOM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738 Tags
Green List (high evidence)	MECP2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rett syndrome, MIM# 312750 Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055 Encephalopathy, neonatal severe, MIM# 300673 Tags
Green List (high evidence)	MECR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Optic atrophy 16, MIM# 620629 Tags
Green List (high evidence)	MED11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Tags
Green List (high evidence)	MED12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ohdo syndrome, X-linked MIM#300895 Lujan-Fryns syndrome MIM#309520 Opitz-Kaveggia syndrome MIM#305450 Hardikar syndrome, MIM# 301068 Tags
Green List (high evidence)	MED12L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, MED12L-related Intellectual disability Seizures Autism Tags
Green List (high evidence)	MED13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 61, MIM# 618009 Tags
Green List (high evidence)	MED13L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation and distinctive facial features with or without cardiac defects 616789 Transposition of the great arteries, dextro-looped 1 608808 Tags
Green List (high evidence)	MED16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags founder
Green List (high evidence)	MED23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy, MIM# 614249 Tags
Green List (high evidence)	MED25	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Tags
Green List (high evidence)	MED27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Tags
Green List (high evidence)	MEF2C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chromosome 5q14.3 deletion syndrome, 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 MONDO:0013266 Tags 5'UTR SV/CNV
Green List (high evidence)	MEFV	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial Mediterranean fever MIM# 249100 Tags
Green List (high evidence)	MEGF10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399 Tags
Green List (high evidence)	MEGF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carpenter syndrome, MIM#614976 Tags
Green List (high evidence)	MEI4	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infertility disorder, MONDO:0005047, MEI4-related Tags
Green List (high evidence)	MEIOB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 22 MIM#617706 Premature ovarian failure 23, MIM# 620686 Tags
Green List (high evidence)	MEIS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft palate, cardiac defects, and mental retardation (MIM#600987) Tags
Green List (high evidence)	MEOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Klippel-Feil syndrome 2, OMIM:214300 Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958 Tags
Green List (high evidence)	MERTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 38, MIM# 613862 Tags
Green List (high evidence)	MESD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Osteogenesis imperfecta, type XX, MIM# 618644 Tags
Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 2, autosomal recessive (MIM#608681) Tags
Green List (high evidence)	MET	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 11 (MIM#620019), AD Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074 Papillary renal cell carcinoma MONDO:0017884 Tags
Green List (high evidence)	METTL23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 44, MIM# 615942 Tags
Green List (high evidence)	METTL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 72, MIM# 618665 Tags
Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green List (high evidence)	MFN2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Hereditary motor and sensory neuropathy VIA, MIM# 601152 Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800 Tags
Green List (high evidence)	MFRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 5, MIM# 611040 Tags
Green List (high evidence)	MFSD2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 15, primary, autosomal recessive, MIM# 616486 Tags
Green List (high evidence)	MFSD8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 MONDO:0012588 Macular dystrophy with central cone involvement, MIM# 616170 MONDO:0014515 Tags
Green List (high evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Green List (high evidence)	MGME1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 11, MIM# 615084 Tags
Green List (high evidence)	MGP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keutel syndrome, MIM #245150 Skeletal dysplasia MONDO:0018230, MGP-related Tags
Green List (high evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green List (high evidence)	MID1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Opitz GBBB syndrome, type I (MIM#300000) Tags
Green List (high evidence)	MINPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 16, MIM# 619527 Tags
Green List (high evidence)	MIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 15, multiple types, MIM# 615274 Tags
Green List (high evidence)	MIPEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 31, MIM# 617228 Tags
Green List (high evidence)	MIR140	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618 Tags
Green List (high evidence)	MIR17HG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Feingold syndrome 2 OMIM #614326 Tags
Green List (high evidence)	MIR184	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EDICT syndrome, MIM# 614303 Tags
Green List (high evidence)	MITF	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306 Tietz albinism-deafness syndrome, MIM# 103500 Waardenburg syndrome, type 2A, MIM# 193510 Tags
Green List (high evidence)	MKKS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700 Retinitis pigmentosa Tags
Green List (high evidence)	MKRN3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Precocious puberty, central, 2, MIM# 615346 Tags 5'UTR SV/CNV
Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 28, MIM# 617121 MONDO:0014928 Meckel syndrome 1, MIM# 249000 MONDO:0009571 Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 Tags
Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Tags
Green List (high evidence)	MLIP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green List (high evidence)	MLPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Griscelli syndrome, type 3, MIM# 609227 Tags
Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green List (high evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100 Tags treatable
Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110 Tags treatable
Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green List (high evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green List (high evidence)	MME	2 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017 MONDO:0014866 Spinocerebellar ataxia 43 MIM#617018 Tags
Green List (high evidence)	MMP13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal anadysplasia 1 (MIM#602111) Metaphyseal dysplasia, Spahr type (MIM#250400) ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111) Tags
Green List (high evidence)	MMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600 Tags
Green List (high evidence)	MMP20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IIA2 MIM#612529 Tags
Green List (high evidence)	MMP21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 7, autosomal,MIM# 616749 Tags
Green List (high evidence)	MMP9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal anadysplasia 2, MIM# 613073 Tags
Green List (high evidence)	MN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CEBALID syndrome, MIM#618774 Intellectual disability dysmophic features rhombencephalosynapsis Tags
Green List (high evidence)	MNS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy male infertility Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948 Tags
Green List (high evidence)	MNX1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Currarino syndrome, MIM# 176450 Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related Tags
Green List (high evidence)	MOCOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xanthinuria type II, MIM#603592 Tags
Green List (high evidence)	MOCS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency B MIM#252160 Disorders of molybdenum cofactor metabolism Tags
Green List (high evidence)	MOGS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIb 606056 Tags
Green List (high evidence)	MORC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green List (high evidence)	MOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infertility disorder, MONDO:0005047, MOS-related Early embryonic arrest and fragmentation Tags
Green List (high evidence)	MPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial pyruvate carrier deficiency, MIM# 614741 Tags
Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green List (high evidence)	MPDZ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219 Tags
Green List (high evidence)	MPEG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 77, MIM# 619223 Tags
Green List (high evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257 Tags
Green List (high evidence)	MPIG6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Tags
Green List (high evidence)	MPL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myelofibrosis with myeloid metaplasia, somatic, MIM#254450 Thrombocythemia 2, MIM#601977, AD, SMu Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR Tags
Green List (high evidence)	MPLKIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 4, nonphotosensitive, MIM# 234050 MONDO:0021013 Tags
Green List (high evidence)	MPP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Delayed speech and language development Developmental regression Behavioral abnormality Tags
Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Tags
Green List (high evidence)	MPZ	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, dominant intermediate D, 60779 Neuropathy, congenital hypomyelinating, 605253 Charcot Marie Tooth disease, type 2J, 607736 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677 HMSN Tags
Green List (high evidence)	MPZL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 111, MIM#618145 Tags
Green List (high evidence)	MRAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glucocorticoid deficiency 2, MIM# 607398 Tags
Green List (high evidence)	MRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Noonan syndrome 11, MIM#618499 Tags
Green List (high evidence)	MRE11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia-like disorder 1, MIM# 604391 MONDO:0024557 Tags
Green List (high evidence)	MRM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 17, MIM# 618567 Tags
Green List (high evidence)	MRPL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 9 OMIM #614582 Tags
Green List (high evidence)	MRPL39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646 Tags
Green List (high evidence)	MRPL44	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 16, MIM# 615395 Tags
Green List (high evidence)	MRPL49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease, MONDO:0044970, MRPL49-related Tags
Green List (high evidence)	MRPS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 36, MIM# 617950 Tags
Green List (high evidence)	MRPS22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 5 MIM#611719 Ovarian dysgenesis 7 MIM#618117 Tags
Green List (high evidence)	MRPS23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hepatic disease Combined respiratory chain complex deficiencies Hepatic disease Combined respiratory chain complex deficiencies Cardiomyopathy Tubulopathy Lactic acidosis Structural brain abnormalities Combined oxidative phosphorylation deficiency 45, MIM#618951 Tags
Green List (high evidence)	MRPS34	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 32, 61766 Tags
Green List (high evidence)	MRUPAV_PLIN4 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 Tags STR
Green List (high evidence)	MSH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial adenomatous polyposis 4 , MIM#617100 Tags
Green List (high evidence)	MSH4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary ovarian insufficiency azoospermia Tags
Green List (high evidence)	MSH5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 74, MIM# 619937 Premature ovarian failure 13, MIM#617442 Tags
Green List (high evidence)	MSL2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985 Tags
Green List (high evidence)	MSL3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basilicata-Akhtar syndrome, OMIM # 301032 Tags
Green List (high evidence)	MSMO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834 MONDO:0014793 Disorders of the metabolism of sterols Tags
Green List (high evidence)	MSN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 50, MIM# 300988 Tags
Green List (high evidence)	MSRB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 74, MIM# 613718 Tags
Green List (high evidence)	MSTO1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 Tags
Green List (high evidence)	MSX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia Tags
Green List (high evidence)	MSX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 2 (MIM#604757) Parietal foramina 1 (MIM#168500) Parietal foramina with cleidocranial dysplasia (MIM#168550) Tags
Green List (high evidence)	MTCL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes slowly progressive cerebellar ataxia mild intellectual disability seizures episodic pain spinocerebellar ataxia Tags
Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Tags
Green List (high evidence)	MTHFD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780 Tags
Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport Tags
Green List (high evidence)	MTHFS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green List (high evidence)	MTM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, centronuclear, X-linked, MIM# 310400 Tags
Green List (high evidence)	MTMR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 MONDO:0011066 Tags
Green List (high evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 10, OMIM #614702 Tags
Green List (high evidence)	MTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Tags
Green List (high evidence)	MTPAP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spastic ataxia 4, autosomal recessive 613672 Lethal encephalopathy Tags founder
Green List (high evidence)	MTR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green List (high evidence)	MTRR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270 Tags
Green List (high evidence)	MTSS1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 Tags
Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Abetalipoproteinaemia, MIM# 200100 Tags
Green List (high evidence)	MTX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibuloacral dysplasia progeroid syndrome, MIM# 619127 Mandibuloacral dysplasia lipodystrophy arterial calcification Tags
Green List (high evidence)	MUC1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Medullary cystic kidney disease 1 (MIM#174000) Tags
Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150 MONDO:0100101 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325 MONDO:0014587 Tags
Green List (high evidence)	MUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags new gene name treatable
Green List (high evidence)	MVD	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Porokeratosis 7, multiple types, MIM# 614714 Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR Tags
Green List (high evidence)	MVK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria MIM# 610377 Tags
Green List (high evidence)	MYBBP1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydrops fetalis, MONDO:0015193, MYBBP1A-related Tags
Green List (high evidence)	MYBPC1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1B 614335 Lethal congenital contracture syndrome 4, MIM# 614915 Myopathy, congenital, with tremor MIM#618524 Tags
Green List (high evidence)	MYCBP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities Tags
Green List (high evidence)	MYCN	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder (MONDO:0700092), MYCN-related Feingold syndrome 1 MIM#164280 Tags
Green List (high evidence)	MYD88	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 68, MIM# 612260 Tags
Green List (high evidence)	MYF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855 Tags
Green List (high evidence)	MYH10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Tags
Green List (high evidence)	MYH14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 4A, MIM# 600652 Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 Tags
Green List (high evidence)	MYH2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proximal myopathy and ophthalmoplegia, MIM# 605637 Tags
Green List (high evidence)	MYH3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469 Tags
Green List (high evidence)	MYH6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 3 MIM#614089 Congenital heart disease Cardiomyopathy, dilated, 1EE MIM#613252 Cardiomyopathy, hypertrophic, 14 MIM#613251 {Sick sinus syndrome 3} MIM#614090 Tags
Green List (high evidence)	MYH8	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trismus-pseudocamptodactyly syndrome MIM# 158300 Carney complex variant MIM# 608837 Tags
Green List (high evidence)	MYH9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 17, MIM# 603622 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 MYH9-related disorders Tags
Green List (high evidence)	MYL9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365 Tags
Green List (high evidence)	MYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Carey-Fineman-Ziter syndrome OMIM #254940 Tags founder
Green List (high evidence)	MYMX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome MONDO:0009700 Tags
Green List (high evidence)	MYO15A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 3, MIM# 600316 autosomal recessive nonsyndromic deafness 3 MONDO:0010860 Tags
Green List (high evidence)	MYO18B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549 Tags
Green List (high evidence)	MYO1E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 6, MIM# 614131 Tags
Green List (high evidence)	MYO3A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 30, MIM# 607101 Deafness, autosomal dominant 90, MIM# 620722 Tags
Green List (high evidence)	MYO5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Griscelli syndrome, type 1 MIM#214450 Tags
Green List (high evidence)	MYO5B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microvillus inclusion disease, MIM# 251850 Cholestasis Tags
Green List (high evidence)	MYO6	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 22, MIM# 606346 Deafness, autosomal recessive 37, MIM# 607821 Tags
Green List (high evidence)	MYO7A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 11, MIM# 601317 Deafness, autosomal recessive 2, 600060 Usher syndrome, type 1B, MIM# 276900 Tags
Green List (high evidence)	MYOC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glaucoma 1A, primary open angle, MIM# 137750 Tags
Green List (high evidence)	MYOCD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megabladder, congenital, MIM# 618719 Tags
Green List (high evidence)	MYOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975 Tags
Green List (high evidence)	MYOT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 3, MIM# 609200 Myopathy, spheroid body, MIM# 182920 Tags
Green List (high evidence)	MYPN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 11, autosomal recessive MIM#617336 AR cardiomyopathy MIM#615248 AD Tags
Green List (high evidence)	MYRF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Nanophthalmos and high hyperopia Cardiac-urogenital syndrome, MIM# 618280 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, MIM# 618113 Tags
Green List (high evidence)	MYSM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure syndrome 4, MIM#618116 Tags treatable
Green List (high evidence)	MYT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofacial microsomia OAV spectrum Tags
Green List (high evidence)	MYT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 39, MIM# 616521 Tags SV/CNV
Green List (high evidence)	MYZAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2K, MIM# 620894 Tags
Green List (high evidence)	NAA10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855 Tags 5'UTR
Green List (high evidence)	NAA15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787 Tags
Green List (high evidence)	NAA20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 73, MIM# 619717 Tags
Green List (high evidence)	NAA60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786 Tags
Green List (high evidence)	NACC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Tags
Green List (high evidence)	NADK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green List (high evidence)	NADSYN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077 Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 Tags
Green List (high evidence)	NAE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 Tags
Green List (high evidence)	NAF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365 Tags
Green List (high evidence)	NAGA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kanzaki disease, MIM# 609242 Schindler disease, type I and type II 609241 alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 Tags
Green List (high evidence)	NAGLU	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 MONDO:0009656 Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 MONDO:0014665 Tags
Green List (high evidence)	NAGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes N-acetylglutamate synthase deficiency - MIM#237310 Tags
Green List (high evidence)	NALCN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419 Tags
Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442 Tags
Green List (high evidence)	NAPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 107 MIM#620033 Tags
Green List (high evidence)	NARS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green List (high evidence)	NARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239 Deafness, autosomal recessive 94 - MIM#618434 Tags
Green List (high evidence)	NAV3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, NAV3-related Tags
Green List (high evidence)	NAXD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Tags
Green List (high evidence)	NAXE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Tags
Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 Infantile liver failure syndrome 2, MIM# 616483 Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 Tags
Green List (high evidence)	NBEA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures Tags
Green List (high evidence)	NBEAL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gray platelet syndrome, MIM# 139090 Tags
Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nijmegen breakage syndrome, MIM# 251260 MONDO:0009623 Tags
Green List (high evidence)	NCAPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 21, primary, autosomal recessive OMIM #617983 Tags
Green List (high evidence)	NCDN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373 Tags
Green List (high evidence)	NCF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 1, autosomal recessive, MIM# 233700 Tags
Green List (high evidence)	NCF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green List (high evidence)	NCF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 Tags
Green List (high evidence)	NCKAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder (MONDO#0700092), NCKAP1-related Tags
Green List (high evidence)	NCKAP1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency Immune dysregulation Immunodeficiency 72 with autoinflammation, MIM# 618982 Tags
Green List (high evidence)	NCSTN	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	NDC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes triple-A syndrome MONDO:0009279 Tags
Green List (high evidence)	NDE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microhydranencephaly 605013 Lissencephaly 4 (with microcephaly) 614019 Tags
Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 2, X-linked, MIM 305390 Norrie disease, MIM 310600 Tags
Green List (high evidence)	NDRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, type 4D, 601455 MONDO:0011085 Auditory neuropathy Tags
Green List (high evidence)	NDST1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 46 - MIM#616116 Tags
Green List (high evidence)	NDUFA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green List (high evidence)	NDUFA10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Green List (high evidence)	NDUFA12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 23 618244 Tags
Green List (high evidence)	NDUFA13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249 Tags
Green List (high evidence)	NDUFA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Tags
Green List (high evidence)	NDUFA4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Leigh syndrome Complex IV deficiency Tags
Green List (high evidence)	NDUFA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253 Tags
Green List (high evidence)	NDUFA9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247 Tags
Green List (high evidence)	NDUFAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Tags
Green List (high evidence)	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green List (high evidence)	NDUFAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Tags
Green List (high evidence)	NDUFAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Tags
Green List (high evidence)	NDUFAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green List (high evidence)	NDUFAF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239) Tags
Green List (high evidence)	NDUFAF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome Tags
Green List (high evidence)	NDUFB10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes fatal infantile lactic acidosis cardiomyopathy Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003 Tags
Green List (high evidence)	NDUFB11	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952) MONDO:0010494 Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) MONDO:0026721 X-linked sideroblastic anaemia Tags
Green List (high evidence)	NDUFB3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246 MONDO:0032629 Tags
Green List (high evidence)	NDUFB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252 Tags
Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Tags
Green List (high evidence)	NDUFS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Tags
Green List (high evidence)	NDUFS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Tags
Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010 Tags
Green List (high evidence)	NDUFS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Tags
Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green List (high evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green List (high evidence)	NDUFV2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Tags
Green List (high evidence)	NEB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 2, autosomal recessive 256030 MONDO:0009725 Arthrogryposis multiplex congenita 6, MIM# 619334 Tags
Green List (high evidence)	NECTIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Zlotogora-Ogur syndrome Tags
Green List (high evidence)	NECTIN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573) Tags
Green List (high evidence)	NEDD4L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Periventricular nodular heterotopia 7, MIM# 617201 Tags
Green List (high evidence)	NEFH	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924 Tags
Green List (high evidence)	NEFL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882 Charcot-Marie-Tooth disease, type 1F, MIM# 607734 Charcot-Marie-Tooth disease, type 2E 607684 Tags
Green List (high evidence)	NEK1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100 Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892 Tags
Green List (high evidence)	NEK10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ciliary dyskinesia, primary, 44, MIM# 618781 Tags
Green List (high evidence)	NEK8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 MONDO:0014174 Polycystic kidney disease 8, MIM# 620903 Tags
Green List (high evidence)	NEMF	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099 Intellectual disability neuropathy Tags
Green List (high evidence)	NEPRO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Anauxetic dysplasia 3, MIM618853 Tags
Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sialidosis, type I and type II, MIM# 256550 MONDO:0009738 Tags
Green List (high evidence)	NEUROD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Maturity-onset diabetes of the young 6, MIM#606394 Retinitis pigmentosa, retinopathy, permanent neonatal diabetes Tags
Green List (high evidence)	NEUROD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 72, MIM# 618374 Intellectual disability Tags
Green List (high evidence)	NEUROG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 Tags
Green List (high evidence)	NEUROG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 4, malabsorptive, congenital, MIM# 610370 Tags
Green List (high evidence)	NEXMIF	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 98 300912 Tags
Green List (high evidence)	NEXN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal fetal cardiomyopathy Hydrops fetalis Cardiomyopathy, dilated 1CC - MIM#613122 Tags
Green List (high evidence)	NF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukemia, juvenile myelomonocytic 607785 Neurofibromatosis, familial spinal 162210 Neurofibromatosis, type 1 162200 Neurofibromatosis-Noonan syndrome 601321 Watson syndrome 193520 Tags
Green List (high evidence)	NFASC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction OMIM #618356 Tags
Green List (high evidence)	NFE2L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744 Recurrent respiratory and skin infection Growth retardation Developmental delay, borderline ID White matter cerebral lesions Tags treatable
Green List (high evidence)	NFIA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brain malformations with or without urinary tract defects - MIM#613735 Tags
Green List (high evidence)	NFIB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Tags SV/CNV
Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sotos syndrome 2 (MIM#614753) Marshall-Smith syndrome, MIM# 602535 Tags
Green List (high evidence)	NFKB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia Tags
Green List (high evidence)	NFKB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 10 MIM# 615577 Low serum IgG, IgA, IgM low B cell numbers low switched memory B cells Recurrent sinopulmonary infections, Alopecia endocrinopathies ACTH deficiency Tags
Green List (high evidence)	NFKBIA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Ectodermal dysplasia TCR/ BCR activation impaired low memory and isotype switched B cells decreased IgG and IgA elevated IgM poor specific antibody responses diarrhoea agammaglobulinaemia ectodermal dysplasia recurrent respiratory and gastrointestinal infections colitis variable defects of skin, hair and teeth Tags
Green List (high evidence)	NFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 52, MIM#619386 Complex II/III deficiency multisystem organ failure Tags
Green List (high evidence)	NFU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Spastic paraplegia 93, autosomal recessive, MIM# 620938 Tags
Green List (high evidence)	NGF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 MONDO:0012092 Tags
Green List (high evidence)	NGLY1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation, MIM# 615273 Tags
Green List (high evidence)	NHEJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 Cernunnos-XLF deficiency MONDO:0012650 Microphthalmia/coloboma, MIM# 13 620968 Tags
Green List (high evidence)	NHLRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green List (high evidence)	NHLRC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278 Tags
Green List (high evidence)	NHP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Tags
Green List (high evidence)	NHS	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nance-Horan syndrome - MIM#302350 Cataract 40, X-linked - MIM#302200 Tags
Green List (high evidence)	NID1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dandy-Walker malformation and occipital cephalocele Hydrocephalus with or without seizures Tags
Green List (high evidence)	NIID STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green List (high evidence)	NIPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 6, autosomal dominant, MIM# 600363 MONDO:0010878 Tags
Green List (high evidence)	NIPAL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 6 - MIM#612281 Tags
Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 1, MIM#122470 Tags
Green List (high evidence)	NIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrovascular disorder, NIT1-related (MONDO:0011057) Tags
Green List (high evidence)	NKAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual disability Tags
Green List (high evidence)	NKX2-1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Chorea, hereditary benign MIM#118700 Tags
Green List (high evidence)	NKX2-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment Tags
Green List (high evidence)	NKX2-5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 7, with or without AV conduction defects, MIM# 108900 Ventricular septal defect 3 (MIM#614432) Tetralogy of Fallot (MIM#187500) Tags
Green List (high evidence)	NKX2-6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Conotruncal heart malformations - MIM#217095 Persistent truncus arteriosus - MIM#217095 Tags
Green List (high evidence)	NKX3-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330 Tags
Green List (high evidence)	NKX6-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560 MONDO:0033043 Tags
Green List (high evidence)	NLGN3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 {Asperger syndrome susceptibility, X-linked 1} - MIM#300494 {Autism susceptibility, X-linked 1} - MIM#300425 Tags
Green List (high evidence)	NLGN4X	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, MIM# 300495 Tags
Green List (high evidence)	NLRC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial cold autoinflammatory syndrome 4 - MIM#616115 Autoinflammation with infantile enterocolitis - MIM#616050 Tags
Green List (high evidence)	NLRP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammation with arthritis and dyskeratosis, MIM# 617388 Palmoplantar carcinoma, multiple self-healing, MIM# 615225 Recurrent respiratory papillomatosis Tags
Green List (high evidence)	NLRP12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial cold autoinflammatory syndrome 2 - MIM#611762 Tags
Green List (high evidence)	NLRP2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes female infertility early embryonic arrest Tags
Green List (high evidence)	NLRP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 Tags
Green List (high evidence)	NLRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Early embryonic arrest Multi locus imprinting disturbance in offspring Tags
Green List (high evidence)	NLRP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydatidiform mole, recurrent, 1 - MIM#231090 Tags
Green List (high evidence)	NMNAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Leber congenital amaurosis 9, MIM# 608553 Tags founder SV/CNV
Green List (high evidence)	NNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736 Tags
Green List (high evidence)	NOBOX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Premature ovarian failure 5,MIM#611548 Tags
Green List (high evidence)	NOD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Blau syndrome, MIM# 186580 Tags
Green List (high evidence)	NOG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachydactyly, type B2 - MIM#611377 Multiple synostoses syndrome 1 (MIM#186500) Stapes ankylosis with broad thumbs and toes (MIM#184460) Symphalangism, proximal, 1A (MIM#185800) Tarsal-carpal coalition syndrome (MIM#186570) Tags
Green List (high evidence)	NONO	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967 Tags
Green List (high evidence)	NOS1AP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 22, MIM# 619155 Tags
Green List (high evidence)	NOTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 5 (MIM#616028) Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alagille syndrome 2 (MIM#610205) Hajdu-Cheney syndrome (MIM#102500) Tags
Green List (high evidence)	NOVA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859 Tags
Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900 Tags SV/CNV
Green List (high evidence)	NPHP3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meckel syndrome 7, MIM# 267010 Nephronophthisis 3, MIM# 604387 Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Tags
Green List (high evidence)	NPHP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 Tags
Green List (high evidence)	NPHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 1, MIM# 256300 Tags
Green List (high evidence)	NPHS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 2 (MIM#600995), AR Tags
Green List (high evidence)	NPM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes radial ray defects short stature nail dsytrophy bone marrow failure Tags
Green List (high evidence)	NPNT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal agenesis, MONDO:0018470, NPNT-related Tags
Green List (high evidence)	NPR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Genetic hypertension MONDO:0015512 Tags
Green List (high evidence)	NPR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acromesomelic dysplasia, Maroteaux type MIM# 602875 Epiphyseal chondrodysplasia, Miura type, MIM# 615923 Short stature with nonspecific skeletal abnormalities, MIM# 616255 Tags
Green List (high evidence)	NPR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Boudin-Mortier syndrome, MIM#619543 Tall stature, skeletal abnormalities, aortic dilatation Tags
Green List (high evidence)	NPRL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 2, MIM# 617116 focal seizures frontal lobe epilepsy nocturnal frontal lobe epilepsy temporal lobe epilepsy focal cortical dysplasia Tags
Green List (high evidence)	NPRL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 3- MIM#617118 Tags
Green List (high evidence)	NPTX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes cerebellar ataxia MONDO#0000437, NPTX1-related Tags
Green List (high evidence)	NR0B1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hypoplasia, congenital (MIM# 300200) 46XY sex reversal 2, dosage-sensitive, MIM# 300018 Tags SV/CNV
Green List (high evidence)	NR1H4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic, 5, MIM# 617049 Tags
Green List (high evidence)	NR2E3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 37 - MIM#611131 Enhanced S-cone syndrome - MIM#268100 Goldmann-Favre syndrome - MONDO#0100289 retinal dystrophy Tags
Green List (high evidence)	NR2F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green List (high evidence)	NR2F2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Krithika Murali (Victorian Clinical Genetics Services) 46,XX sex reversal 5 - MIM#618901 Congenital heart defects, multiple types, 4 - MIM#615779 Current 46,XX sex reversal 5 - MIM#618901 Congenital heart defects, multiple types, 4 - MIM#615779 Edit 46,XX sex reversal 5 - MIM#618901 Congenital heart defects, multiple types, 4 - MIM#615779 Tags
Green List (high evidence)	NR3C1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glucocorticoid resistance, OMIM # 615962 Tags
Green List (high evidence)	NR3C2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735 MONDO:0008329 Tags
Green List (high evidence)	NR4A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green List (high evidence)	NR5A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenocortical insufficiency, (MIM#612964) 46, XX sex reversal 4, (MIM# 617480) Premature ovarian failure 7, (MIM#612964) Spermatogenic failure 8, (MIM#613957) 46XY sex reversal 3, (MIM#612965) Tags
Green List (high evidence)	NR6A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniofacial microsomia MONDO:0015397 Tags
Green List (high evidence)	NRAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy Tags
Green List (high evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 6, MIM# 613224 Tags
Green List (high evidence)	NRCAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833 Tags
Green List (high evidence)	NRL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 27 - MIM#613750 Retinal degeneration, autosomal recessive, clumped pigment type Tags
Green List (high evidence)	NRROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodegeneration intracranial calcification epilepsy Tags
Green List (high evidence)	NRXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins-like syndrome 2 - MIM#614325 Tags
Green List (high evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1 (MIM#117550), AD Tags
Green List (high evidence)	NSD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rauch-Steindl syndrome, MIM# 619695 Microcephaly intellectual disability Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092 Tags
Green List (high evidence)	NSDHL	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes CHILD syndrome (MMIM#308050) Tags
Green List (high evidence)	NSRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green List (high evidence)	NSUN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 5 - MIM#611091 Tags
Green List (high evidence)	NSUN6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 82, MIM# 620779 Tags
Green List (high evidence)	NT5C2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 45, autosomal recessive, MIM# 613162 MONDO:0013165 Tags
Green List (high evidence)	NT5C3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120 Tags
Green List (high evidence)	NT5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Calcification of joints and arteries, MIM# 211800 Tags
Green List (high evidence)	NTN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mirror movements 4 MIM#618264 Tags
Green List (high evidence)	NTNG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability autism dysmorphic features Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718 Tags
Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Insensitivity to pain, congenital, with anhidrosis - MIM#256800 Tags
Green List (high evidence)	NTRK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 58, MIM# 617830 Obesity, hyperphagia, and developmental delay, MIM# 613886 Tags
Green List (high evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Tags
Green List (high evidence)	NUDCD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes severe combined immunodeficiency MONDO:0015974 Tags
Green List (high evidence)	NUDT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy Tags
Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 7, MIM# 618348 Tags founder
Green List (high evidence)	NUP133	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 18, MIM#618177 Tags
Green List (high evidence)	NUP160	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 19, MIM#618178 Tags
Green List (high evidence)	NUP188	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation Tags
Green List (high evidence)	NUP214	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426 epileptic encephalopathy developmental regression microcephaly Tags
Green List (high evidence)	NUP85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 17, MIM#618176 Tags
Green List (high evidence)	NUP88	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fetal akinesia deformation sequence 4, MIM# 618393 Tags
Green List (high evidence)	NUP93	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 12 - MIM#616892 Tags
Green List (high evidence)	NUS1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1aa 617082 Mental retardation, autosomal dominant 55, with seizures 617831 Tags
Green List (high evidence)	NXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal recessive 2 618529 Tags
Green List (high evidence)	NYX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500 Tags
Green List (high evidence)	OAS1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags
Green List (high evidence)	OAS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related Tags
Green List (high evidence)	OAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 Tags
Green List (high evidence)	OBSCN	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rhabdomyolysis MONDO:0005290, OBSCN-related Tags disputed
Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-M syndrome 2, MIM #612921 Tags
Green List (high evidence)	OCA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, brown oculocutaneous 203200 Albinism, oculocutaneous, type II 203200 autosomal dominant Albinism, oculocutaneous Tags SV/CNV
Green List (high evidence)	OCLN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 1, MIM#251290 Tags
Green List (high evidence)	OCRL	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dent disease 2, MIM# 300555 Lowe syndrome , MIM#309000 Tags
Green List (high evidence)	ODC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075 Tags
Green List (high evidence)	OFD1	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10, 300804 Simpson-Golabi-Behmel syndrome, type 2, 300209 Orofaciodigital syndrome I, 311200 Retinitis pigmentosa 23, 300424 Tags
Green List (high evidence)	OGDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oxoglutarate dehydrogenase deficiency, MIM# 203740 Developmental delay ataxia seizure raised lactate Tags
Green List (high evidence)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia Tags
Green List (high evidence)	OGT	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 106, MIM# 300997 Tags
Green List (high evidence)	ONECUT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neonatal diabetes mellitus MONDO:0016391 Tags
Green List (high evidence)	OPA1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896 Behr syndrome MIM#210000, AR Optic atrophy 1, MIM#165500 Optic atrophy plus syndrome, MIM# 125250 Tags
Green List (high evidence)	OPA3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR Optic atrophy 3 with cataract (MIM#165300), AD Tags
Green List (high evidence)	OPDM2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy 2 MIM#618940 Tags
Green List (high evidence)	OPDM4 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green List (high evidence)	OPDM_ABCD3_GCC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Tags
Green List (high evidence)	OPN1SW	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Colourblindness, tritan - MIM#190900 Tags
Green List (high evidence)	ORAI1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 9, MIM# 612782 Myopathy, tubular aggregate, 2, MIM# 615883 Tags
Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 1, MIM# 224690 MONDO:0009143 Tags
Green List (high evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 2, MIM# 613800 Tags
Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 3, MIM# 613803 Tags
Green List (high evidence)	OSBPL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 67 - MIM#616340 Tags
Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green List (high evidence)	OSMR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, primary localized cutaneous, 1 - MIM#105250 Tags
Green List (high evidence)	OSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 5 (MIM#259720) Tags
Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ornithine transcarbamylase deficiency - MIM#311250 Tags treatable
Green List (high evidence)	OTOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 22, MIM# 607039 Tags SV/CNV
Green List (high evidence)	OTOF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal recessive, 1 (MIM # 601071) Deafness, autosomal recessive 9 (MIM # 601071) Tags
Green List (high evidence)	OTOG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 18B - MIM#614945 Tags
Green List (high evidence)	OTOGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 84B, MIM# 614944 Tags
Green List (high evidence)	OTUD5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Tags
Green List (high evidence)	OTUD6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green List (high evidence)	OTULIN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099 Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 Tags
Green List (high evidence)	OTX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 5, MIM# 610125 Pituitary hormone deficiency, combined, 6, MIM# 613986 Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125 Tags
Green List (high evidence)	OVOL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, posterior polymorphous, 1, MIM# 122000 Tags 5'UTR
Green List (high evidence)	OXCT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green List (high evidence)	OXR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures cerebellar atrophy Tags
Green List (high evidence)	P2RX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 41, MIM# 608224 Tags
Green List (high evidence)	P2RY12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 8, MIM# 609821 MONDO:0012354 Tags
Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VIII, MIM# 610915 Tags
Green List (high evidence)	P3H2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292 Tags
Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 1, MIM#112240 Tags
Green List (high evidence)	P4HTM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Green List (high evidence)	PABPC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Tags
Green List (high evidence)	PABPN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oculopharyngeal muscular dystrophy - MIM#164300 Tags STR
Green List (high evidence)	PACS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schuurs-Hoeijmakers syndrome (MIM# 615009) Tags
Green List (high evidence)	PACS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 66 - MIM#618067 Tags
Green List (high evidence)	PADI3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Uncombable hair syndrome - MIM#191480 Tags
Green List (high evidence)	PADI6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pre-implantation embryonic lethality 2 MIM#617234 Multi locus imprinting disturbance in offspring Recurrent hydatiform mole Tags
Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags SV/CNV
Green List (high evidence)	PAH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Phenylketonuria MIM#261600 Disorders of phenylalanine or tyrosine metabolism Tags treatable
Green List (high evidence)	PAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay OMIM #618158 Tags
Green List (high evidence)	PAK2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Knobloch 2 syndrome, MIM#618458 Tags
Green List (high evidence)	PAK3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 30/47, MIM# 300558 Intellectual disability Tags
Green List (high evidence)	PAM16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320 Tags
Green List (high evidence)	PAN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, PAN2-related Tags
Green List (high evidence)	PANX1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oocyte maturation defect 7, MIM# 618550 Tags
Green List (high evidence)	PAPPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature, Dauber-Argente type, MIM#619489 Tags
Green List (high evidence)	PAPSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Tags
Green List (high evidence)	PARN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371 Tags
Green List (high evidence)	PARP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Microcephaly Tags
Green List (high evidence)	PARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green List (high evidence)	PATL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oocyte maturation defect 4, MIM# 617743 Tags
Green List (high evidence)	PAX1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Otofaciocervical syndrome 2, MIM#615560 Syndromic SCID Tags
Green List (high evidence)	PAX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Papillorenal syndrome, MIM# 120330 Renal coloboma syndrome, MONDO:0007352 Glomerulosclerosis, focal segmental, 7 - MIM#616002 Tags
Green List (high evidence)	PAX3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofacial-deafness-hand syndrome (MIM#122880), AD 2 Waardenburg syndrome, type 1 (MIM#193500), AD Waardenburg syndrome, type 3 (MIM#148820), AD, AR Tags
Green List (high evidence)	PAX5	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, PAX5-related Hypogammaglobulinaemia Tags
Green List (high evidence)	PAX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coloboma of optic nerve - MIM# 120430 Coloboma, ocular - MIM#120200 Morning glory disc anomaly - MIM#120430 Aniridia - MIM#106210 Anterior segment dysgenesis 5, multiple subtypes - MIM#604229 Cataract with late-onset corneal dystrophy - MIM#106210 Foveal hypoplasia 1- MIM#136520 Keratitis - MIM#148190 Optic nerve hypoplasia - MIM#165550 Tags
Green List (high evidence)	PAX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, congenital, progressive, with scoliosis, MIM# 618578 Tags
Green List (high evidence)	PAX8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Tags
Green List (high evidence)	PAX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tooth agenesis, selective, 3 - MIM#604625 Tags
Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641 Tags
Green List (high evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate carboxylase deficiency - MIM#266150 Tags
Green List (high evidence)	PCBD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags
Green List (high evidence)	PCBP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, PCBP2-related Tags
Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Propionicacidaemia - MIM#606054 Tags treatable
Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Propionicacidaemia - MIM#606054 Tags treatable
Green List (high evidence)	PCDH12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green List (high evidence)	PCDH15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1F, MIM# 602083 Deafness, autosomal recessive 23, MIM# 609533 Tags
Green List (high evidence)	PCDH19	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 9 300088 PCDH19-related epilepsy (early seizure onset, generalised or focused seizures) cognitive impairment Tags
Green List (high evidence)	PCDHGC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Tags
Green List (high evidence)	PCGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Turnpenny-Fry syndrome, MIM# 618371 Tags
Green List (high evidence)	PCK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680 Disorders of gluconeogenesis Tags
Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720 MONDO:0008872 Tags
Green List (high evidence)	PCSK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Obesity with impaired prohormone processing MIM#600955 Tags
Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940 Lipodystrophy, congenital generalized, type 5, MIM# 620680 Tags
Green List (high evidence)	PCYT2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 82, autosomal recessive 618770 global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green List (high evidence)	PDCD10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral cavernous malformations 3 MIM#603285 Tags
Green List (high evidence)	PDE10A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Striatal degeneration, autosomal dominant, MIM# 616922 Tags
Green List (high evidence)	PDE12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease MONDO:0044970, PDE12-related Tags
Green List (high evidence)	PDE2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Paroxysmal dyskinesia Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150 Tags
Green List (high evidence)	PDE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertension and brachydactyly syndrome - MIM#112410 Tags
Green List (high evidence)	PDE4D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrodysostosis 2, with or without hormone resistance, MIM# 614613 Tags
Green List (high evidence)	PDE6A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 43 - MIM#613810 Tags
Green List (high evidence)	PDE6B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500 Retinitis pigmentosa-40 - MIM#613801 Tags
Green List (high evidence)	PDE6C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone dystrophy 4, MIM# 613093 Achromatopsia-5 Tags
Green List (high evidence)	PDE6D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 22, OMIM #615665 Tags
Green List (high evidence)	PDE6H	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achromatopsia 6 - MIM#610024 Tags
Green List (high evidence)	PDE8B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Striatal degeneration, autosomal dominant, MIM#609161 Tags
Green List (high evidence)	PDGFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 5 , MIM#615483 Tags
Green List (high evidence)	PDGFRA	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510 coloboma MONDO#0001476, PDGFRA-related Tags
Green List (high evidence)	PDGFRB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 Kosaki overgrowth syndrome, MIM# 616592 Myeloproliferative disorder with eosinophilia, MIM# 131440 Myofibromatosis, infantile, 1, MIM# 228550 Premature ageing syndrome, Penttinen type, MIM# 601812 Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091 Tags
Green List (high evidence)	PDHA1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170 Tags
Green List (high evidence)	PDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-beta deficiency - MIM#614111 Tags
Green List (high evidence)	PDHX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags founder
Green List (high evidence)	PDK3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905 HMSN Tags
Green List (high evidence)	PDP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase phosphatase deficiency - MIM#608782 Tags
Green List (high evidence)	PDSS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green List (high evidence)	PDSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 3 MIM#614652 Tags
Green List (high evidence)	PDX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pancreatic agenesis 1 - MIM#260370 (AR) MODY, type IV - MIM#606392(AD) Tags
Green List (high evidence)	PDXK	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Axonal polyneuropathy optic atrophy Tags
Green List (high evidence)	PDYN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 23 - MIM#610245 Tags
Green List (high evidence)	PDZD7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 57, MIM# 618003 Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472 Tags
Green List (high evidence)	PDZD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021 Tags
Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Prolidase deficiency MIM#170100 disorders of peptide metabolism Tags
Green List (high evidence)	PERP	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Olmsted syndrome 2, MIM# 619208 Erythrokeratodermia variabilis et progressiva 7, MIM# 619209 Tags
Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heimler syndrome 1 234580 Peroxisome biogenesis disorder 1A (Zellweger) 214100 . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 Tags
Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870) Peroxisome biogenesis disorder 6B (MIM#614871) Tags
Green List (high evidence)	PEX11B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 14B - MIM#614920 Tags
Green List (high evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 Peroxisome biogenesis disorder 3B - MIM#266510 Tags
Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883 Peroxisome biogenesis disorder 11B - MIM#614885 Tags
Green List (high evidence)	PEX14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887 Tags
Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876 Peroxisome biogenesis disorder 8B - MIM#614877 Tags
Green List (high evidence)	PEX19	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886 Tags
Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866 Peroxisome biogenesis disorder 5B - MIM#614867 Tags
Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872 Peroxisome biogenesis disorder 7B - MIM#614873 Tags
Green List (high evidence)	PEX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Peroxisome biogenesis disorder 10B , MIM# 617370 Tags
Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Peroxisome biogenesis disorder 2B, MIM# 202370 Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716 Tags
Green List (high evidence)	PEX6	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heimler syndrome 2, MIM# 616617 Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Peroxisome biogenesis disorder 4B, MIM# 614863 Tags
Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VII, MIM# 232800 Tags
Green List (high evidence)	PFN1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 18 (MIM# 614808) Paget’s disease of bone Tags
Green List (high evidence)	PGAM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease X, MIM# 261670 Tags
Green List (high evidence)	PGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802 Tags
Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Green List (high evidence)	PGAP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green List (high evidence)	PGK1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392 Tags
Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It 614921 Glycogen storage disorder XIV Tags treatable
Green List (high evidence)	PGM2L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris Tags
Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green List (high evidence)	PHACTR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 70, MIM# 618298 Tags
Green List (high evidence)	PHEX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets, MIM#307800 Tags
Green List (high evidence)	PHF21A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features Tags
Green List (high evidence)	PHF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), PHF5A-related Tags
Green List (high evidence)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Tags
Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation syndrome, X-linked, Siderius type, MIM#300263 Tags
Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green List (high evidence)	PHIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chung-Jansen syndrome, MIM# 617991 Tags
Green List (high evidence)	PHKA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscle glycogenosis, MIM# 300559 Tags
Green List (high evidence)	PHKA2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease, type IXa1 and a2, MIM# 306000 Tags
Green List (high evidence)	PHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Glycogen storage disease IXb, MONDO:0009868 Tags
Green List (high evidence)	PHKG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IXc, MIM# 613027 Tags
Green List (high evidence)	PHOX2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrosis of extraocular muscles, congenital, 2 602078 Tags
Green List (high evidence)	PHOX2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880 Neuroblastoma with Hirschsprung disease - MIM#613013 Tags
Green List (high evidence)	PHYH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Refsum disease, MIM# 266500 Tags
Green List (high evidence)	PI4K2A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Cutis laxa, intellectual disability, movement disorder Tags
Green List (high evidence)	PI4KA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 Neurodevelopmental syndrome with hypomyelinating leukodystrophy Spastic paraplegia 84, autosomal recessive, MIM# 619621 Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Tags
Green List (high evidence)	PIBF1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Joubert syndrome 33 OMIM #617767 Tags
Green List (high evidence)	PIDD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Tags
Green List (high evidence)	PIEZO1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 6, 616843 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 Erythrocytosis Tags
Green List (high evidence)	PIEZO2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Marden-Walker syndrome (MIM#248700) Arthrogryposis, distal, type 3 (MIM#114300) Arthrogryposis, distal, type 5 (MIM#108145) Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146 Tags
Green List (high evidence)	PIGA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072 Tags
Green List (high evidence)	PIGB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 80, MIM# 618580 Tags
Green List (high evidence)	PIGC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Tags
Green List (high evidence)	PIGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green List (high evidence)	PIGH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green List (high evidence)	PIGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags founder SV/CNV
Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Fryns syndrome Tags founder SV/CNV
Green List (high evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green List (high evidence)	PIGP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green List (high evidence)	PIGQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 77, MIM# 618548 Tags
Green List (high evidence)	PIGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green List (high evidence)	PIGU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21 OMIM #618590 Tags
Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green List (high evidence)	PIGW	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green List (high evidence)	PIH1D3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 36, X-linked (MIM#300991) Tags
Green List (high evidence)	PIK3C2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oculoskeletodental syndrome, MIM# 618440 Tags
Green List (high evidence)	PIK3CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501 CLAPO syndrome, somatic, MIM# 613089 CLOVE syndrome, somatic, MIM# 612918 Tags
Green List (high evidence)	PIK3CD	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513 Tags
Green List (high evidence)	PIK3CG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 97 with autoinflammation, MIM# 619802 Immune dysregulation HLH-like childhood-onset antibody defects cytopenias T lymphocytic pneumonitis and colitis Tags
Green List (high evidence)	PIK3R1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes SHORT syndrome, MIM # 269880 Immunodeficiency 36, MIM#616005 Tags
Green List (high evidence)	PIK3R2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Tags
Green List (high evidence)	PIKFYVE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal fleck dystrophy, MIM# 121850 Tags
Green List (high evidence)	PIP5K1C	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Lethal congenital contractural syndrome 3, MIM# 611369 Tags
Green List (high evidence)	PISD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Liberfarb syndrome, MIM# 618889 Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities Tags
Green List (high evidence)	PITRM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green List (high evidence)	PITX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 Clubfoot, MONDO:0007342 Liebenberg syndrome, OMIM:186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800 Tags
Green List (high evidence)	PITX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 4, MIM# 137600 Axenfeld-Rieger syndrome, type 1, MIM# 180500 Tags
Green List (high evidence)	PITX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623 Microphthalmia MONDO:0021129 Tags
Green List (high evidence)	PKD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 1, MIM# 173900 Tags
Green List (high evidence)	PKD1L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 8, autosomal (MIM#617205) Tags
Green List (high evidence)	PKD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 2, MIM# 613095 Tags
Green List (high evidence)	PKDCC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rhizomelic limb shortening with dysmorphic features, MIM# 618821 Tags
Green List (high evidence)	PKHD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Nephrocalcinosis, MONDO:0001567, PKHD1-related Tags
Green List (high evidence)	PKHD1L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes non syndromic hearing loss (MONDO:0020678) Tags
Green List (high evidence)	PKLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate kinase deficiency, MIM# 266200 Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900 Tags
Green List (high evidence)	PKP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia/skin fragility syndrome, MIM# 604536 Tags
Green List (high evidence)	PLA2G16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green List (high evidence)	PLA2G4A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372 Tags
Green List (high evidence)	PLA2G5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes [Fleck retina, familial benign], MIM# 228980 Tags
Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green List (high evidence)	PLAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Silver-Russell syndrome, MIM#618907 Tags
Green List (high evidence)	PLAU	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Quebec platelet disorder, MIM# 601709 Tags SV/CNV
Green List (high evidence)	PLCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 12 (MIM#613722) Tags SV/CNV
Green List (high evidence)	PLCB4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auriculocondylar syndrome 2A, MIM# 614669 Auriculocondylar syndrome 2B, MIM# 620458 Tags
Green List (high evidence)	PLCD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail disorder, nonsyndromic congenital, 3, (leukonychia) MIM#151600 nonsyndromic congenital nail disorder 3 MONDO:0007900 Tags
Green List (high evidence)	PLCE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 3, MIM# 610725 Tags
Green List (high evidence)	PLCG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Common variable immunodeficiency Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Tags
Green List (high evidence)	PLD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiac valvular defect, developmental, MIM# 212093 neonatal cardiomyopathy Tags founder
Green List (high evidence)	PLEC	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa simplex with nail dystrophy, MIM# 616487 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670 Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138 Epidermolysis bullosa simplex, Ogna type MIM#131950 Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723 Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related Tags
Green List (high evidence)	PLEKHG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376 Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Tags
Green List (high evidence)	PLEKHM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal dominant 3, MIM# 618107 Osteopetrosis, autosomal recessive 6 , MIM# 611497 Tags
Green List (high evidence)	PLG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hereditary angioedema-4 (HAE4), MIM#619360 Plasminogen deficiency, type I, MIM# 217090 Tags
Green List (high evidence)	PLK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy microcephaly intellectual disability Tags
Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Tags
Green List (high evidence)	PLN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1P, MIM# 609909 Cardiomyopathy, hypertrophic, 18 (MIM #613874) Tags
Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM## 225400 Tags
Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bruck syndrome 2, MIM# 609220 Tags
Green List (high evidence)	PLOD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pelizaeus-Merzbacher disease MIM#312080 Spastic paraplegia 2, X-linked MIM#312920 Tags
Green List (high evidence)	PLPBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM#617290 Tags
Green List (high evidence)	PLS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 76, MIM# 618787 Tags
Green List (high evidence)	PLS3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 Diaphragmatic hernia 5, X-linked, MIM# 306950 Tags
Green List (high evidence)	PLVAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 10, protein-losing enteropathy type, MIM# 618183 Tags
Green List (high evidence)	PLXNA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Tags
Green List (high evidence)	PLXNA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Hypogonadotropic hypogonadism Tags
Green List (high evidence)	PLXNB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, PLXNB2 -related Tags
Green List (high evidence)	PLXND1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Möbius syndrome, MONDO:0008006 Congenital heart defects, multiple types, 9, MIM# 620294 Tags
Green List (high evidence)	PMFBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394 Tags
Green List (high evidence)	PMM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia (MIM#212065) Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Tags
Green List (high evidence)	PMP22	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1A, MIM# 118220 Charcot-Marie-Tooth disease, type 1E, MIM# 118300 Dejerine-Sottas disease, MIM# 145900 Neuropathy, recurrent, with pressure palsies 162500 Roussy-Levy syndrome 180800 Tags SV/CNV
Green List (high evidence)	PMPCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green List (high evidence)	PMPCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green List (high evidence)	PMVK	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Porokeratosis 1, multiple types, MIM# 175800 Autoinflammatory syndrome, MONDO:0019751, PMVK-related Tags
Green List (high evidence)	PNKD	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 MONDO:0007326 Tags
Green List (high evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-oculomotor apraxia 4, MIM#616267 Microcephaly, seizures, and developmental delay, MIM#613402 Tags
Green List (high evidence)	PNLDC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spermatogenic failure 57, MIM# 619528 Tags
Green List (high evidence)	PNP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Tags
Green List (high evidence)	PNPLA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 10, MIM# 615024 Tags
Green List (high evidence)	PNPLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags
Green List (high evidence)	PNPLA6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Boucher-Neuhauser syndrome, 215470 ?Laurence-Moon syndrome, 245800 Oliver-McFarlane syndrome, 275400 Spastic paraplegia 39, autosomal recessive, 612020 Tags
Green List (high evidence)	PNPLA8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Mitochondrial myopathy with lactic acidosis (MIM#251950), AR Tags
Green List (high evidence)	PNPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Tags
Green List (high evidence)	PNPT1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932) Deafness, autosomal recessive 70 (MIM#614934) Spinocerebellar ataxia 25, MIM# 608703 Tags
Green List (high evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813 Tags
Green List (high evidence)	POC1B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 20 (MIM#615973) Tags
Green List (high evidence)	POC5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Idiopathic scoliosis retinitis pigmentosa short stature microcephaly recurrent glomerulonephritis Tags
Green List (high evidence)	PODXL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, MONDO:0005377, PODXL-related Tags
Green List (high evidence)	POFUT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease 2 (MIM# 615327) Tags
Green List (high evidence)	POGLUT1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) Tags
Green List (high evidence)	POGZ	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes White-Sutton syndrome, MIM# 616364 Tags
Green List (high evidence)	POLA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220 Van Esch-O'Driscoll syndrome OMIM# 301030 Tags deep intronic
Green List (high evidence)	POLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Telomere biology syndrome MONDO:0100137 Tags
Green List (high evidence)	POLD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381 MONDO:0014157 Immunodeficiency 120, MIM# 620836 Tags
Green List (high evidence)	POLD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 122, MIM# 620869 Tags
Green List (high evidence)	POLE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FILS syndrome, 615139 IMAGE-I syndrome, 618336 {Colorectal cancer, susceptibility to, 12}, 615083 Tags deep intronic
Green List (high evidence)	POLG	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459 Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450 Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640 Tags
Green List (high evidence)	POLG2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Mitochondrial DNA depletion syndrome 16 , MIM# 618528 Tags
Green List (high evidence)	POLH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 MONDO:0010214 Tags
Green List (high evidence)	POLR1A	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 27, MIM# 620675 Acrofacial dysostosis, Cincinnati type, (MIM#616462) Tags
Green List (high evidence)	POLR1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Treacher-Collins syndrome type 4 Tags
Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 3, MIM# 248390 Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green List (high evidence)	POLR1D	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 2, MIM# 613717 Tags
Green List (high evidence)	POLR2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603 Tags
Green List (high evidence)	POLR3A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Wiedemann-Rautenstrauch syndrome, MIM# 264090 Susceptibility to severe VZV infection POLR3A-related spastic ataxia Tags deep intronic
Green List (high evidence)	POLR3B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Tags
Green List (high evidence)	POLR3K	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes POLR3-related leukodystrophy MONDO:0700282 Tags founder
Green List (high evidence)	POLRMT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 55, MIM# 619743 intellectual disability hypotonia Tags
Green List (high evidence)	POMC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 Tags
Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Retinitis pigmentosa 76 617123 Tags
Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135 Tags
Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094 Tags
Green List (high evidence)	POMP	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952 Proteasome-associated autoinflammatory syndrome 2, MIM# 618048 Tags 5'UTR
Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 Tags
Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Tags
Green List (high evidence)	POP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anauxetic dysplasia 2, OMIM:617396 Anauxetic dysplasia 2, MONDO:0054561 Tags
Green List (high evidence)	POPDC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Sinoatrial node disorder, MONDO:0000469, POPDC2-related Tags
Green List (high evidence)	POPDC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848 Tags
Green List (high evidence)	POR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571 Tags
Green List (high evidence)	PORCN	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Focal dermal hypoplasia, MIM# 305600 Tags
Green List (high evidence)	POU1F1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 pituitary hypoplasia severe growth failure combined GH, PRL and TSH deficiency distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils) Tags
Green List (high evidence)	POU3F2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autism spectrum disorder, NDD, and adolescent-onset obesity neurodevelopmental disorder MONDO:0700092, POU3F2-related Tags
Green List (high evidence)	POU3F3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Snijders Blok-Fisher syndrome MIM#618604 Tags
Green List (high evidence)	POU3F4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 2, MIM#304400 Tags
Green List (high evidence)	POU4F1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352 Tags
Green List (high evidence)	POU4F3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 15, MIM# 602459 Tags
Green List (high evidence)	PPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sudden cardiac failure, alcohol-induced, 617223 Sudden cardiac failure, infantile, 617222 Tags
Green List (high evidence)	PPARG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, familial partial, type 3, MIM# 604367 MONDO:0011448 Tags
Green List (high evidence)	PPCS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 2C, MIM# 618189 Tags
Green List (high evidence)	PPFIA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related Tags
Green List (high evidence)	PPFIBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Tags
Green List (high evidence)	PPIB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type IX, MIM# 259440 Tags
Green List (high evidence)	PPIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 14, MIM# 619301 microcephaly seizures Tags
Green List (high evidence)	PPM1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jansen de Vries syndrome, MIM #617450 Tags
Green List (high evidence)	PPOX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Porphyria variegata , MIM#176200 Variegate porphyria, childhood-onset, MIM# 620483 Tags
Green List (high evidence)	PPP1CB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, OMIM # 617506 Tags
Green List (high evidence)	PPP1R12A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability holoprosencephaly disorder of sex development Tags
Green List (high evidence)	PPP1R13L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Tags
Green List (high evidence)	PPP1R21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383 Hypotonia intellectual disability white matter abnormalities Tags
Green List (high evidence)	PPP1R3F	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Tags
Green List (high evidence)	PPP2CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities OMIM #618354 Tags
Green List (high evidence)	PPP2R1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Tags
Green List (high evidence)	PPP2R3C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Tags
Green List (high evidence)	PPP2R5C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Phenotypes Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092) macrocephaly intellectual disability Tags
Green List (high evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Houge-Janssens syndrome 1, MIM#616355 Tags
Green List (high evidence)	PPP3CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 91, MIM#617711 Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265 Tags
Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744 Tags
Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renpenning syndrome, MIM#309500 Tags
Green List (high evidence)	PQLC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, PQLC2-related Tags new gene name
Green List (high evidence)	PRCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 36, MIM# 610599 Tags
Green List (high evidence)	PRDM12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488 MONDO:0014662 Tags
Green List (high evidence)	PRDM13	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Chorioretinal atrophy, progressive bifocal, MIM# 600790 Pontocerebellar hypoplasia, type 17, MIM# 619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976 Tags 5'UTR founder SV/CNV
Green List (high evidence)	PRDM16	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1LL MIM#615373 Left ventricular noncompaction 8 MIM#615373 Tags
Green List (high evidence)	PRDM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brittle cornea syndrome 2, MIM# 614170 Tags
Green List (high evidence)	PRDM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Patent ductus arteriosus 3 MIM#617039 Tags
Green List (high evidence)	PRDM9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inherited primary ovarian failure MONDO:0019852 Tags
Green List (high evidence)	PRDX1	1 review 1 green	Other	Sources Expert Review Green Literature Phenotypes methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Tags digenic
Green List (high evidence)	PRDX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes cerebellar ataxia (early onset, mild to moderate, progressive) Tags
Green List (high evidence)	PREPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Disorders of amino acid transport Tags
Green List (high evidence)	PRF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aplastic anemia 609135 Hemophagocytic lymphohistiocytosis, familial, 2 603553 Lymphoma, non-Hodgkin 605027 Tags
Green List (high evidence)	PRG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250 Tags
Green List (high evidence)	PRIM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder
Green List (high evidence)	PRKACA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1, MIM# 619142 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Green List (high evidence)	PRKACB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Green List (high evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrodysostosis 1, with or without hormone resistance, MIM# 101800 Carney complex, type 1, MIM# 160980 Myxoma, intracardiac, MIM# 255960 Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489 Tags
Green List (high evidence)	PRKAR1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Marbach-Schaaf neurodevelopmental syndrome MIM#619680 Global developmental delay Intellectual disability Autism Attention deficit hyperactivity disorder Aggressive behavior Abnormality of movement Upslanted palpebral fissure Tags
Green List (high evidence)	PRKCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type III, MIM# 615559 CVID 9 Tags
Green List (high evidence)	PRKCG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Tags
Green List (high evidence)	PRKCSH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic liver disease 1 (MIM#174050) Tags
Green List (high evidence)	PRKD1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects and ectodermal dysplasia, 617364 Congenital heart disease, autosomal recessive Tags
Green List (high evidence)	PRKDC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966 Absent T and B cells normal NK cells SCID recurrent respiratory infections microcephaly seizures developmental delay Tags
Green List (high evidence)	PRKG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 8, MIM# 615436 Tags
Green List (high evidence)	PRKG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Acromesomelic dysplasia 4, MIM# 619636 Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638 Tags
Green List (high evidence)	PRKRA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 16, MIM# 612067 MONDO:0012789 Tags
Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Tags
Green List (high evidence)	PROC	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombophilia due to protein C deficiency, autosomal dominant (176860) Thrombophilia due to protein C deficiency, autosomal recessive (612304) Tags
Green List (high evidence)	PRODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperprolinaemia, type I 239500 Proline oxidase deficiency Tags
Green List (high evidence)	PROK2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628 Tags
Green List (high evidence)	PROKR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 Tags
Green List (high evidence)	PROM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inherited retinal dystrophy, MONDO:0019118 Cone-rod dystrophy 12, MIM# 612657 Macular dystrophy, retinal, 2, MI# 608051 Retinitis pigmentosa 41, MIM# 612095 Stargardt disease 4, MIM# 603786 Tags
Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 2 MIM# 262600 Ateliotic dwarfism with hypogonadism growth failure short stature failure to thrive absent sexual development at puberty GH, PRL, TSH, LH, and FSH deficiency pituitary hypoplasia Tags
Green List (high evidence)	PROS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336 Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514 Tags
Green List (high evidence)	PRPF19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), PRPF19-related Tags
Green List (high evidence)	PRPF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 18, MIM# 601414 Tags
Green List (high evidence)	PRPF31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 11, MIM#600138 Tags SV/CNV
Green List (high evidence)	PRPF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 70, MIM# 615922 Tags
Green List (high evidence)	PRPF8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 13, MIM#600059 Neurodevelopmental disorder MONDO:0700092, PRPF8-related Tags
Green List (high evidence)	PRPH2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 18, MIM#608133 Macular dystrophy, vitelliform, 3, MIM#608161 Retinitis pigmentosa 7 and digenic form, MIM#608133 Choroidal dystrophy, central areolar 2, MIM#613105 Macular dystrophy, patterned, 1, MIM#169150 Retinitis punctata albescens, MIM#136880 Tags
Green List (high evidence)	PRPS1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Arts syndrome MIM#301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070 Deafness, X-linked 1 MIM#304500 Gout, PRPS-related MIM#300661 Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 Tags
Green List (high evidence)	PRR12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuroocular syndrome, MIM#619539 Intellectual disability Iris abnormalities Complex microphthalmia Tags
Green List (high evidence)	PRRT2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 Episodic kinesigenic dyskinesia 1 128200 Seizures, benign familial infantile, 2 605751 Tags
Green List (high evidence)	PRRX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agnathia-otocephaly complex, MIM# 202650 Tags
Green List (high evidence)	PRSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pancreatitis, hereditary, MIM# 167800 Tags SV/CNV
Green List (high evidence)	PRSS56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 6, MIM# 613517 Tags
Green List (high evidence)	PRUNE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481 Tags
Green List (high evidence)	PRX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 4F, MIM# 614895 Dejerine-Sottas disease, MIM# 145900 Tags
Green List (high evidence)	PSAP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinson disease, AD Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 MONDO:0012720 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 MONDO:0009590 Gaucher disease, atypical, MIM# 610539 MONDO:0012517 Tags
Green List (high evidence)	PSAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphoserine aminotransferase deficiency 610992 Neu-Laxova syndrome 2 616038 Tags
Green List (high evidence)	PSENEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736 Tags
Green List (high evidence)	PSKH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Tags
Green List (high evidence)	PSMB10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 Severe combined immunodeficiency, MONDO:0015974, PSMB10-related Tags
Green List (high evidence)	PSMB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698 Tags
Green List (high evidence)	PSMB9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 Proteasome-associated autoinflammatory syndrome 6, MIM# 620796 Tags
Green List (high evidence)	PSMC3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, PSMC3-related Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Green List (high evidence)	PSMC3IP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ovarian dysgenesis 3, MIM# 614324 Tags
Green List (high evidence)	PSMC5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), PSMC5-related Tags
Green List (high evidence)	PSMD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PSMD11-related Tags
Green List (high evidence)	PSMD12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stankiewicz-Isidor syndrome, MIM# 617516 Tags
Green List (high evidence)	PSMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Tags
Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Phosphoserine phosphatase deficiency MIM#614023 Disorders of serine, glycine or glycerate metabolism Tags
Green List (high evidence)	PSTPIP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome Tags
Green List (high evidence)	PTCD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency-51, MIM#619057 Intellectual disability optic atrophy Leigh-like syndrome Tags
Green List (high evidence)	PTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 7, MIM# 610828 Bladder exstrophy and epispadias complex (BEEC) Tags
Green List (high evidence)	PTCHD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes intellectual disability MIM#300830 Tags
Green List (high evidence)	PTCRA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 126, MIM# 620931 Tags
Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lenz-Majewski hyperostotic dwarfism MIM#151050 Tags
Green List (high evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pancreatic agenesis 2, MIM# 615935 Pancreatic and cerebellar agenesis, MIM# 609069 Tags
Green List (high evidence)	PTH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, familial isolated 1, MIM# 146200 Tags
Green List (high evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Failure of tooth eruption, primary MIM#125350 Eiken syndrome MIM#600002 Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400 Chondrodysplasia, Blomstrand type MIM#215045 Tags
Green List (high evidence)	PTHLH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachydactyly, type E2, MIM# 613382 Tags
Green List (high evidence)	PTPMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes inborn mitochondrial metabolism disorder MONDO:0004069 Tags
Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LEOPARD syndrome 1 (MIM#151100) Noonan syndrome 1 (MIM#163950) Metachondromatosis (MIM#156250) Tags
Green List (high evidence)	PTPN14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Choanal atresia and lymphoedema, MIM# 613611 Tags
Green List (high evidence)	PTPN23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Tags
Green List (high evidence)	PTPN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PTPN4-related Tags
Green List (high evidence)	PTPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 Hepatitis C virus, susceptibility to MIM# 609532 Tags
Green List (high evidence)	PTPRO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 6, MIM# 614196 Tags
Green List (high evidence)	PTPRQ	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 84A, MIM# 613391 Deafness, autosomal dominant 73, MIM# 617663 Tags
Green List (high evidence)	PTRH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263 Tags
Green List (high evidence)	PTRHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Tags
Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Verheij syndrome, MIM# 615583 Tags
Green List (high evidence)	PUM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 47, MIM# 617931 Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Tags
Green List (high evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 Tags
Green List (high evidence)	PUS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051 Tags
Green List (high evidence)	PUS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342 Tags
Green List (high evidence)	PXDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400 Tags
Green List (high evidence)	PYCR1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes cutis laxa Tags
Green List (high evidence)	PYCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Green List (high evidence)	PYGL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VI, MIM# 232700 Tags
Green List (high evidence)	PYGM	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes McArdle disease, MIM# 232600 Glycogen storage disease, autosomal dominant Tags
Green List (high evidence)	PYROXD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 8 , MIM#617258 Tags
Green List (high evidence)	QARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags
Green List (high evidence)	QRICH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ververi-Brady syndrome, MIM#617982 Tags
Green List (high evidence)	QRSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 40 Tags
Green List (high evidence)	RAB11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures Tags
Green List (high evidence)	RAB11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 3, MIM# 614222 Tags founder
Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carpenter syndrome (MIM#201000) Tags
Green List (high evidence)	RAB27A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Griscelli syndrome, type 2, MIM# 607624 Tags
Green List (high evidence)	RAB28	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 18 (MIM#615374) Tags
Green List (high evidence)	RAB33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-McCort dysplasia 2 (MIM#615222) Tags
Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome 20, MIM#620718 Tags
Green List (high evidence)	RAB39B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 72 MIM#300271 Waisman syndrome MIM#311510 Tags
Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 Tags
Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225 Tags
Green List (high evidence)	RAB5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags
Green List (high evidence)	RAB7A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 2B, MIM# 600882 MONDO:0010949 Tags
Green List (high evidence)	RABGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Tags
Green List (high evidence)	RAC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 48, MIM# 617751 Tags
Green List (high evidence)	RAC2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986 Tags
Green List (high evidence)	RAC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Tags
Green List (high evidence)	RAD21	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mungan syndrome, 611376 Cornelia de Lange syndrome 4, 614701 Holoprocencephaly Tags
Green List (high evidence)	RAD50	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118 Tags
Green List (high evidence)	RAD51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group R, MIM# 617244 Tags
Green List (high evidence)	RAD51C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group O (MIM#613390) Tags
Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 5, MIM# 611553 Cardiomyopathy, dilated, 1NN, MIM# 615916 Tags
Green List (high evidence)	RAG1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Tags
Green List (high evidence)	RAG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Combined cellular and humoral immune defects with granulomas MIM# 233650 Tags
Green List (high evidence)	RAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-Magenis syndrome (MIM#182290) Tags
Green List (high evidence)	RALA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311 Intellectual disability Seizures Tags
Green List (high evidence)	RALGAPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability hypotonia infantile spasms. Tags
Green List (high evidence)	RALGAPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorders, autism Tags
Green List (high evidence)	RANBP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes familial acute necrotizing encephalopathy MONDO:0011953 Tags
Green List (high evidence)	RAP1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Tags
Green List (high evidence)	RAP1GDS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alfadhel syndrome, MIM# 620655 Tags
Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 2 (MIM#618388) Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326) Tags
Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 12, MIM# 615524 Tags
Green List (high evidence)	RARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 9 MIM# 616140 Tags
Green List (high evidence)	RARS2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 6, MIM# 611523 early onset cerebellar ataxia Tags
Green List (high evidence)	RASA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Capillary malformation-arteriovenous malformation 1, MIM#608354 Tags
Green List (high evidence)	RASGRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 64 (MIM#618534) Tags
Green List (high evidence)	RASGRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 18 (MIM#615888) Tags
Green List (high evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 3, MIM# 611038 Tags
Green List (high evidence)	RAX2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 11, MIM# 610381 Retinitis pigmentosa-95 (RP95), MIM#620102 Tags
Green List (high evidence)	RBBP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, RBBP5-related Tags
Green List (high evidence)	RBBP8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744 Tags
Green List (high evidence)	RBCK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895 muscular weakness cardiomyopathy recurrent bacterial/viral infections autoinflammation immunodeficiency Poor antibody responses to polysaccharides failure to thrive fever pneumonia Tags
Green List (high evidence)	RBFOX1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Tags
Green List (high evidence)	RBFOX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes RBFOX2-related congenital heart disorder (MONDO:0100557) Tags
Green List (high evidence)	RBL2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 Tags
Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes TARP syndrome, MIM# 311900 Tags
Green List (high evidence)	RBM20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1DD 613172 AD Tags
Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia-absent radius syndrome, MIM# 274000 Tags SV/CNV
Green List (high evidence)	RBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 66, MIM# 615233 Tags
Green List (high evidence)	RBP4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated, with coloboma 10 MIM#616428 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147 Tags
Green List (high evidence)	RBPJ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 3, MIM# 614814 Tags
Green List (high evidence)	RBSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937 Tags
Green List (high evidence)	RCBTB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinal dystrophy with or without extraocular anomalies, MIM# 617175 Tags
Green List (high evidence)	RD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 12, MIM#610612 Tags
Green List (high evidence)	RDH12	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 13, MIM# 612712 Retinitis pigmentosa, autosomal dominant Tags
Green List (high evidence)	RDH5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fundus albipunctatus (MIM#136880) Tags
Green List (high evidence)	RDX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 24, MIM# 611022 Tags
Green List (high evidence)	REC114	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Female infertility Oocyte maturation defect 10, MIM# 619176 Tags
Green List (high evidence)	RECQL4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baller-Gerold syndrome, MIM# 218600 RAPADILINO syndrome, MIM# 266280 Rothmund-Thomson syndrome, type 2,MIM# 268400 RECON progeroid syndrome, MIM# 620370 Tags
Green List (high evidence)	REEP1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011 Neuronopathy, distal hereditary motor, type VB MIM#614751 Spastic paraplegia 31, autosomal dominant MIM#610250 Tags
Green List (high evidence)	REEP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 72, dominant and recessive, MIM# 615625 MONDO:0014282 Tags
Green List (high evidence)	REEP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 77, MIM# 617304 Tags
Green List (high evidence)	RELA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mucocutaneous ulceration, chronic, MIM# 618287 Impaired NFkB activation reduced production of inflammatory cytokines autoimmune cytopaenias Tags
Green List (high evidence)	RELB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 53, MIM# 617585 T cells: normal number, poor diversity, poor function recurrent infections Tags
Green List (high evidence)	RELN	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 2 (Norman-Roberts type), MIM# 257320 {Epilepsy, familial temporal lobe, 7}, MIM# 616436 ankylosing spondylitis Tags
Green List (high evidence)	RELT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Amelogenesis imperfecta, type IIIC, MIM# 618386 Tags
Green List (high evidence)	REN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Autosomal dominant tubulointerstitial disease Tags
Green List (high evidence)	RERE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green List (high evidence)	REST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 27, MIM# 612431 {Wilms tumor 6, susceptibility to}, MIM# 616806 Fibromatosis, gingival, 5, MIM# 617626 Tags
Green List (high evidence)	RETREG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142 Tags
Green List (high evidence)	REV3L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Moebius syndrome Tags
Green List (high evidence)	RFC1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	RFC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 Tags
Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green List (high evidence)	RFX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ID, ASD, ADHD Tags
Green List (high evidence)	RFX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ID, ASD, ADHD Tags
Green List (high evidence)	RFX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group C MIM# 209920 Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 Tags
Green List (high evidence)	RFX6	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitchell-Riley syndrome, MIM# 615710 Tags
Green List (high evidence)	RFX7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330 Tags
Green List (high evidence)	RFXANK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MHC class II deficiency, complementation group B MIM# 209920 Bare Lymphocyte Syndrome, type II, complementation group B Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags founder
Green List (high evidence)	RFXAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags founder
Green List (high evidence)	RGS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bradyopsia, MIM# 608415 Tags
Green List (high evidence)	RGS9BP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bradyopsia, MIM# 608415 Tags
Green List (high evidence)	RHAG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anaemia, haemolytic, Rh-null, regulator type MIM# 268150 Overhydrated hereditary stomatocytosis MIM#185000 Tags
Green List (high evidence)	RHBDF2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tylosis with esophageal cancer, MIM# 148500 Immune dysregulation Tags
Green List (high evidence)	RHCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rh-null disease, amorph type, MIM# 617970 Tags
Green List (high evidence)	RHEB	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, RHEB-related Intellectual disability Macrocephaly Focal cortical dysplasia Tags
Green List (high evidence)	RHO	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445 Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731 Tags
Green List (high evidence)	RHOA	2 reviews 2 green	Other	Sources Expert Review Green Literature Phenotypes normal cognition leukoencephalopathy micro-ophthalmia strabismus linear hypopigmentation malar hypoplasia downslanting palpebral fissures microstomia dental anomalies body asymmetry limb length discrepancy Tags somatic
Green List (high evidence)	RHOBTB2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 64, MIM#618004 Tags
Green List (high evidence)	RIC1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cleft lip/palate MONDO:0016044, RIC1-related Cleft lip cataract tooth abnormality intellectual disability facial dysmorphism ADHD Tags
Green List (high evidence)	RICTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RICTOR-related Tags
Green List (high evidence)	RIMS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 7 , MIM#603649 Autism MONDO:0005260 Tags
Green List (high evidence)	RIMS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes nystagmus retinal dysfunction autism night blindness Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 Tags
Green List (high evidence)	RIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075 Tags
Green List (high evidence)	RINT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 3, MIM# 618641 Hereditary spastic paraplegia, MONDO:0019064, RINT1-related Tags
Green List (high evidence)	RIPK1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 57, MIM#618108 Tags
Green List (high evidence)	RIPK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650 Tags
Green List (high evidence)	RIPPLY2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 6, MIM# 616566 Tags
Green List (high evidence)	RIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 8, MIM# 615355 Tags
Green List (high evidence)	RLBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fundus albipunctatus MIM#136880 Bothnia retinal dystrophy MIM#607475 Tags
Green List (high evidence)	RLIM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tonne-Kalscheuer syndrome, MIM# 300978 Tags
Green List (high evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green List (high evidence)	RMRP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia MIM#250250 Tags
Green List (high evidence)	RNASEH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479 Tags
Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 3 (MIM# 610329), AR Tags
Green List (high evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, cystic, without megalencephaly MIM#612951 Tags
Green List (high evidence)	RNF113A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953 Tags
Green List (high evidence)	RNF125	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tenorio syndrome - MIM# 616260 Tags
Green List (high evidence)	RNF13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 73, MIM# 618379 Tags
Green List (high evidence)	RNF168	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes RIDDLE syndrome MIM# 611943 Radiosensitivity Immune Deficiency Dysmorphic Features Learning difficulties Low IgG or IgA Short stature mild defect of motor control to ataxia normal intelligence to learning difficulties mild facial dysmorphism to microcephaly Tags
Green List (high evidence)	RNF170	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 85, autosomal recessive, MIM# 619686 Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Tags
Green List (high evidence)	RNF213	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Susceptibility to Moyamoya disease 2, (MIM# 607151) Tags
Green List (high evidence)	RNF216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green List (high evidence)	RNF220	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green List (high evidence)	RNH1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RNH1-related {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461 Tags
Green List (high evidence)	RNPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160 Tags
Green List (high evidence)	RNU12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CDAGS syndrome MIM#603116 Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations Tags
Green List (high evidence)	RNU2-2P	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related Tags
Green List (high evidence)	RNU4-2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Tags
Green List (high evidence)	RNU4ATAC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags
Green List (high evidence)	RNU5B-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related Tags
Green List (high evidence)	RNU7-1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 9, MIM# 619487 Tags
Green List (high evidence)	ROBO1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303 Nystagmus 8, congenital, autosomal recessive, MIM# 257400 Neurooculorenal syndrome, MIM# 620305 Tags
Green List (high evidence)	ROBO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vesicoureteral reflux 2 - MIM#610878 CAKUT Tags
Green List (high evidence)	ROBO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313) Tags
Green List (high evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kohlschutter-Tonz syndrome, MIM# 226750 Tags
Green List (high evidence)	ROM1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 7, digenic form, MIM# 608133 Tags
Green List (high evidence)	ROR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal recessive MIM# 268310 hypertelorism short stature mesomelic shortening of the limbs hypoplastic genitalia rib/vertebral anomalies abnormal morphogenesis of the face Brachydactyly, type B1 MIM# 113000 hypoplasia/aplasia of distal phalanges and nails (2-5) Tags
Green List (high evidence)	RORA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 Tags
Green List (high evidence)	RORB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD Genetic generalized epilepsy (GGE) Photosensitive generalized and occipital epilepsy Tags
Green List (high evidence)	RORC	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 42, MIM# 616622 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710 Tags
Green List (high evidence)	RP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 1 MIM#180100 Tags
Green List (high evidence)	RP1L1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Occult macular dystrophy (MIM#613587) AD Retinitis pigmentosa 88 (MIM#618826) AR Tags
Green List (high evidence)	RP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 2 MIM#312600 Tags
Green List (high evidence)	RPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767 Bone marrow failure T- and B-cell lymphopaenia pulmonary fibrosis skin manifestations short telomeres Tags
Green List (high evidence)	RPE65	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 2 MIM#204100 Retinitis pigmentosa 20 MIM#613794 Retinitis pigmentosa 87 with choroidal involvement MIM#618697 Tags
Green List (high evidence)	RPGR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 3 (MIM#300029) Tags
Green List (high evidence)	RPGRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382) Tags
Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Nephronophthisis Tags
Green List (high evidence)	RPH3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Tags
Green List (high evidence)	RPIA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ribose 5-phosphate isomerase deficiency, MIM# 608611 Tags
Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic, 35, MIM# 300998 Tags
Green List (high evidence)	RPL11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938 Tags
Green List (high evidence)	RPL13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal Dysplasia with Severe Short Stature Tags
Green List (high evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 12, MIM# 615550 Tags
Green List (high evidence)	RPL26	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 11, MIM# 614900 Tags
Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 5, MIM# 612528 MONDO:0012925 Tags SV/CNV
Green List (high evidence)	RPL3L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2D, MIM# 619371 Neonatal dilated cardiomyopathy Tags
Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 6, MIM# 612561 MONDO:0012937 Tags
Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 9, MIM# 613308 Tags
Green List (high evidence)	RPS17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 4, MIM# 612527 MONDO:0012924 Tags
Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 1, MIM# 105650 MONDO:0007110 Tags
Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-blackfan anemia 3, MIM# 610629 MONDO:0012529 Tags
Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 10, MIM# 613309 MONDO:0013217 Tags
Green List (high evidence)	RPS6KA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Lowry syndrome MIM# 303600 Intellectual disability short stature delayed bone age hearing deficit hypotonia tapering fingers abnormal facies (hypertelorism, anteverted nares, prominent frontal region) Tags
Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 8, MIM# 612563 MONDO:0012939 Tags
Green List (high evidence)	RPSA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Asplenia, isolated congenital 271400 Idiopathic intestinal varices Tags
Green List (high evidence)	RRAGC	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long-Olsen syndrome, MIM# 620609 Tags
Green List (high evidence)	RRAGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, RRAGD-related dilated cardiomyopathy hypomagnesaemia renal salt-wasting nephrocalcinosis Tags
Green List (high evidence)	RRAS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 12, OMIM #618624 Tags
Green List (high evidence)	RRM2B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315 Tags
Green List (high evidence)	RS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinoschisis, MIM#312700 Tags
Green List (high evidence)	RSPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 24 MIM#615481 Tags
Green List (high evidence)	RSPH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 32 MIM#616481 Tags
Green List (high evidence)	RSPH4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 11, OMIM#612649 Tags
Green List (high evidence)	RSPH9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 12, MIM#612650 Tags
Green List (high evidence)	RSPO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644 Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644 Tags
Green List (high evidence)	RSPO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tetraamelia syndrome 2, MIM# 618021 Tags
Green List (high evidence)	RSPO4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anonychia congenita MIM# 206800 Tags
Green List (high evidence)	RSRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 70, MIM# 618402 Tags
Green List (high evidence)	RTEL1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 4 MIM# 615190 Dyskeratosis congenita, autosomal recessive 5 MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373 Tags
Green List (high evidence)	RTN2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 MONDO:0011489 Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 Tags
Green List (high evidence)	RTN4IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green List (high evidence)	RTTN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764 Tags
Green List (high evidence)	RUBCN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital Clinical Genetics Department Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Green List (high evidence)	RUNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Leukemia, acute myeloid, MIM# 601626 Tags
Green List (high evidence)	RUNX1T1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related Tags
Green List (high evidence)	RUNX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleidocranial dysplasia MIM#119600 Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600 Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510 Tags
Green List (high evidence)	RYBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RYBP-related Tags
Green List (high evidence)	RYR1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes {Malignant hyperthermia susceptibility 1} MIM#145600 Central core disease, MIM# 117000 King-Denborough syndrome , MIM#619542 Minicore myopathy with external ophthalmoplegia , MIM#255320 Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000 Tags
Green List (high evidence)	S1PR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 68, MIM# 610419 Tags
Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags SV/CNV
Green List (high evidence)	SAG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oguchi disease-1, MIM# 258100 Retinitis pigmentosa 47, MIM# 613758 Tags
Green List (high evidence)	SALL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Townes-Brocks syndrome 1, MIM#107480 MONDO:0054581 Tags
Green List (high evidence)	SALL4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Duane-radial ray syndrome, MIM# 607323 MONDO:0011812 IVIC syndrome, MIM# 147750 MONDO:0007836 Tags
Green List (high evidence)	SAMD7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Macular dystrophy with or without cone dysfunction, MIM# 620762 Tags
Green List (high evidence)	SAMD9	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MIRAGE syndrome, MIM#617053 Tumoral calcinosis, familial, normophosphatemic, MIM#610455 Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041 Tags
Green List (high evidence)	SAMD9L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-pancytopenia syndrome, MIM# 159550 Intellectual disability Tags
Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green List (high evidence)	SAR1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Chylomicron retention disease, MIM# 246700 Tags
Green List (high evidence)	SARS	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#070009, SARS1-related Genetic peripheral neuropathy MONDO#0020127, SARS1-related Tags
Green List (high evidence)	SARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Tags
Green List (high evidence)	SART3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), SART3-related 46,XY disorder of sex development (MONDO:0020040), SART3-related Tags
Green List (high evidence)	SASH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyschromatosis universalis hereditaria 1, MIM #127500 familial generalized lentiginosis MONDO:007891 Tags
Green List (high evidence)	SASH3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 102, MIM# 301082 Tags
Green List (high evidence)	SASS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 14, primary, autosomal recessive, MIM# 616402 Tags
Green List (high evidence)	SAT1	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Systemic lupus erythematosus, MONDO:0007915, SAT1-related Keratosis follicularis spinulosa decalvans Tags
Green List (high evidence)	SATB1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kohlschutter-Tonz syndrome-like, MIM# 619229 Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 Neurodevelopmental disorder intellectual disability epilepsy microcephaly Tags
Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shwachman-Diamond syndrome, MIM# 260400 Tags
Green List (high evidence)	SBF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green List (high evidence)	SBF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 4B2 , MIM#604563 Tags
Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lathosterolosis, MIM# 607330 Tags
Green List (high evidence)	SCA1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags
Green List (high evidence)	SCA10 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags
Green List (high evidence)	SCA12 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags
Green List (high evidence)	SCA17 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags
Green List (high evidence)	SCA2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags
Green List (high evidence)	SCA3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags
Green List (high evidence)	SCA31 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 31 MIM#117210 Tags
Green List (high evidence)	SCA36 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 36 MIM#614153 Tags
Green List (high evidence)	SCA37 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags
Green List (high evidence)	SCA4_ZFHX3_GGC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green List (high evidence)	SCA7 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags
Green List (high evidence)	SCAF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Fliedner-Zweier syndrome, MIM#620511 Tags
Green List (high evidence)	SCAMP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures autism Tags
Green List (high evidence)	SCAPER	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual disability retinitis pigmentosa Tags
Green List (high evidence)	SCARB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Tags
Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Van den Ende-Gupta syndrome, MIM# 600920 Tags
Green List (high evidence)	SCLT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome Tags
Green List (high evidence)	SCN10A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic pain syndrome, familial, 2, MIM# 615551 Tags
Green List (high evidence)	SCN11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 Episodic pain syndrome, familial, 3, MIM# 615552 Tags
Green List (high evidence)	SCN1A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome Febrile seizures Arthrogryposis multiplex congenita Tags
Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 9, MIM# 618924 Seizures, benign familial infantile, 3, MIM# 607745 Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Green List (high evidence)	SCN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 4, MIM# 617935 Epileptic encephalopathy, early infantile, 62, MIM# 617938 Intellectual disability Malformations of cortical development Tags
Green List (high evidence)	SCN4A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 22A, classic, MIM# 620351 Congenital myopathy 22B, severe fetal, MIM# 620369 Hyperkalemic periodic paralysis, type 2, MIM# 170500 Hypokalemic periodic paralysis, type 2, MIM# 613345 Myasthenic syndrome, congenital, 16, MIM# 614198 Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390 Paramyotonia congenita , MIM#168300 Tags
Green List (high evidence)	SCN8A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive Myoclonus, familial, 2, MIM# 618364 paroxysmal kinesigenic dyskinesias Cognitive impairment with or without cerebellar ataxia, MIM# 614306 Tags
Green List (high evidence)	SCN9A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythermalgia, primary, MIM# 133020 Insensitivity to pain, congenital, MIM# 243000 Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000 Paroxysmal extreme pain disorder, MIM# 167400 Small fiber neuropathy,MIM# 133020 Tags
Green List (high evidence)	SCNM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome XIX, MIM# 620107 Tags
Green List (high evidence)	SCNN1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Liddle syndrome 3 618126, MIM# AD, MONDO:0029132 Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087 Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917 Tags treatable
Green List (high evidence)	SCNN1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Liddle syndrome 1, MIM# 177200 Pseudohypoaldosteronism, type I, MIM# 264350 Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400) Tags
Green List (high evidence)	SCNN1G	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Liddle syndrome 2, MIM# 618114 Pseudohypoaldosteronism, type I, MIM# 264350 Tags
Green List (high evidence)	SCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Green List (high evidence)	SCO2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Myopia 6 Charcot-Marie-Tooth type 4 Cerebellar ataxia and progressive peripheral axonal neuropthy Tags
Green List (high evidence)	SCUBE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184 Short stature skeletal abnormalities craniofacial abnormalities dental anomalies Tags
Green List (high evidence)	SCYL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719 Tags
Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green List (high evidence)	SDHA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011 Cardiomyopathy, dilated, 1GG, MIM# 613642 Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Paragangliomas 5 , MIM#614165 Tags
Green List (high evidence)	SDHAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green List (high evidence)	SDR9C7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive 13 MIM#617574 Tags
Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anemia, congenital, type II , MIM#224100 Cowden syndrome 7, MIM# 616858 Tags
Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 2, MIM# 616294 Tags
Green List (high evidence)	SEC61A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Immunodeficiency, common variable, 15, MIM# 620670 Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674 Tags
Green List (high evidence)	SEC63	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic liver disease 2, MIM# 617004 Tags
Green List (high evidence)	SECISBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid hormone metabolism, abnormal, MIM# 609698 Tags
Green List (high evidence)	SEL1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068 Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067 Tags
Green List (high evidence)	SELENBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Tags
Green List (high evidence)	SELENON	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Muscular dystrophy, rigid spine, 1, MIM# 602771 Tags
Green List (high evidence)	SEMA3A	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease short stature Tags
Green List (high evidence)	SEMA3F	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypogonadotropic hypogonadism Tags
Green List (high evidence)	SEMA6B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Progressive myoclonic epilepsy Intellectual disability, MONDO:0001071, SEMA6B related Tags
Green List (high evidence)	SENP7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Tags
Green List (high evidence)	SEPHS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SEPHS1-related Tags
Green List (high evidence)	SEPSECS	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D, 613811 cerebellar ataxia and cognitive impairment Tags
Green List (high evidence)	SEPT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes male infertility MONDO:0005372 Tags
Green List (high evidence)	SEPT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophy, hereditary neuralgic, MIM# 162100 Tags 5'UTR founder new gene name SV/CNV
Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green List (high evidence)	SERPINA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Emphysema due to AAT deficiency, MIM#613490 Emphysema-cirrhosis, due to AAT deficiency, MIM#613490 Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490 alpha 1-antitrypsin deficiency, MONDO#0013282 Tags
Green List (high evidence)	SERPINA6	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corticosteroid-binding globulin deficiency, MIM#611489 Corticosteroid-binding globulin deficiency, MONDO#0012675 Tags
Green List (high evidence)	SERPINA7	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroxine-binding globulin QTL MIM#300932 Thyroxine-binding globulin deficiency Tags
Green List (high evidence)	SERPINB6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 91, MIM# 613453 Tags
Green List (high evidence)	SERPINB7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar keratoderma, Nagashima type (MIM#615598) Tags founder
Green List (high evidence)	SERPINB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peeling skin syndrome 5, MIM#617115 Tags
Green List (high evidence)	SERPINC1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary antithrombin deficiency MONDO:0013144 Thrombophilia 7 due to antithrombin III deficiency, MIM#613118 Tags
Green List (high evidence)	SERPIND1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes heparin cofactor 2 deficiency, MONDO:0012876 Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356 Tags
Green List (high evidence)	SERPINE1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Plasminogen activator inhibitor-1 deficiency, MIM# 613329 Tags
Green List (high evidence)	SERPINF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VI, MIM# 613982 Tags
Green List (high evidence)	SERPINF2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alpha-2-plasmin inhibitor deficiency, MIM# 262850 Tags
Green List (high evidence)	SERPING1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Angioedema, hereditary, 1 and 2, MIM#106100 Complement component 4, partial deficiency of, MIM#120790 Tags
Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type X, MIM# 613848 Osteogenesis imperfecta type 10, MONDO:0013459 Tags
Green List (high evidence)	SERPINI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Tags
Green List (high evidence)	SET	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 58, MIM#618106 intellectual disability, autosomal dominant 58, MONDO:0020847 Tags
Green List (high evidence)	SETBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 Intellectual disability, autosomal dominant 29, MIM# 616078 Tags
Green List (high evidence)	SETD1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Tags
Green List (high evidence)	SETD1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy with myoclonic absences intellectual disability Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Tags
Green List (high evidence)	SETD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome, MIM#616831 Rabin-Pappas syndrome,MIM# 620155 Intellectual developmental disorder, autosomal dominant 70, MIM# 620157 Tags
Green List (high evidence)	SETD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 23 (MIM # 615761) Tags
Green List (high evidence)	SF3B1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	SF3B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniofacial microsomia, MIM#164210 Tags
Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrofacial dysostosis 1, Nager type, MIM# 154400 Tags
Green List (high evidence)	SFRP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyle disease, MIM#265900 Tags
Green List (high evidence)	SFTPA1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Idiopathic pulmonary fibrosis Interstitial lung disease 1, MIM# 619611 Tags
Green List (high evidence)	SFTPA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis, idiopathic, MIM# 178500 Tags
Green List (high evidence)	SFTPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 Tags
Green List (high evidence)	SFTPC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 Tags
Green List (high evidence)	SFXN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 18, MIM#615578 Tags
Green List (high evidence)	SGCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Tags
Green List (high evidence)	SGCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Tags
Green List (high evidence)	SGCD	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 Tags
Green List (high evidence)	SGCE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044 Tags
Green List (high evidence)	SGCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700 autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 Tags
Green List (high evidence)	SGMS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550 Tags
Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes RENI syndrome (MIM#617575) Tags
Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Green List (high evidence)	SGSM3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), SGSM3-related Tags founder
Green List (high evidence)	SH2B3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Predisposition to haematological malignancies Myeloproliferation and multi-organ autoimmunity juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Tags
Green List (high evidence)	SH2D1A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 Tags
Green List (high evidence)	SH3BP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cherubism, MIM#118400 Tags
Green List (high evidence)	SH3PXD2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Frank-ter Haar syndrome, MIM# 249420 Tags
Green List (high evidence)	SH3TC2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 4C MIM#601596, Mononeuropathy of the median nerve, mild MIM#613353 Tags
Green List (high evidence)	SHANK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, SHANK1-related Tags
Green List (high evidence)	SHANK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Autism susceptibility 17} Autism spectrum disorder with or without intellectual disability Tags
Green List (high evidence)	SHANK3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phelan-McDermid syndrome 606232 MONDO:0011652 Tags SV/CNV
Green List (high evidence)	SHARPIN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammation with episodic fever and immune dysregulation, MIM# 620795 Tags
Green List (high evidence)	SHH	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 3, MIM#142945 Microphthalmia with coloboma 5, MIM#611638 Single median maxillary central incisor, MIM#147250 Hypertelorism, ACC, intellectual disability Tags
Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green List (high evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like with loose anagen hair 1, MIM# 607721 Tags
Green List (high evidence)	SHOX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Langer mesomelic dysplasia, MIM# 249700 Leri-Weill dyschondrosteosis, MIM# 127300 Tags SV/CNV
Green List (high evidence)	SHQ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 35, childhood-onset , MIM# 619921 Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 Tags
Green List (high evidence)	SHROOM4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719 epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579 Tags
Green List (high evidence)	SI	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Sucrase-isomaltase deficiency, congenital #222900 Tags
Green List (high evidence)	SIAH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Buratti-Harel syndrome, MIM# 619314 Developmental delay Infantile hypotonia Dysmorphic features Laryngomalacia Tags
Green List (high evidence)	SIGMAR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 16, juvenile 614373 ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726 distal hereditary motor neuropathy of Jerash type (HMNJ) Tags
Green List (high evidence)	SIK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 30, MIM#616341 developmental and epileptic encephalopathy, MONDO#0100062 Tags
Green List (high evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Marinesco-Sjogren syndrome, MIM#248800 MONDO#0009567 Tags
Green List (high evidence)	SIM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital obesity Prader-Willi-like syndrome Tags
Green List (high evidence)	SIN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Witteveen-Kolk syndrome, OMIM # 613406 Tags
Green List (high evidence)	SIN3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic intellectual disability/autism spectrum disorder Tags
Green List (high evidence)	SIX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 23, MIM# 605192 Branchiootic syndrome 3, MIM# 608389 Sagittal synostosis Multi-suture synostosis Tags
Green List (high evidence)	SIX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 2, MIM# 157170 MONDO:0007999 Tags
Green List (high evidence)	SIX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550 Tags
Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM#182212 Tags
Green List (high evidence)	SKIV2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 2 614602 Intellectual disability Tags
Green List (high evidence)	SLC10A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Familial hypercholanemia-2, MIM#619256 Tags
Green List (high evidence)	SLC10A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Tags
Green List (high evidence)	SLC11A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100 Tags
Green List (high evidence)	SLC12A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 1, MIM# 601678 Tags
Green List (high evidence)	SLC12A2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Delpire-McNeill syndrome, MIM# 619083 Kilquist syndrome, MIM#619080 deafness, intellectual disability, dysmorphic features, absent salivation Deafness, autosomal dominant 78, MIM#619081 Congenital, severe to profound hearing loss Tags
Green List (high evidence)	SLC12A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gitelman syndrome, MIM# 263800 Tags
Green List (high evidence)	SLC12A5	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 34, MIM# 616645 {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 Tags
Green List (high evidence)	SLC12A6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Andermann syndrome Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800 Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 Tags
Green List (high evidence)	SLC12A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SLC12A9-related Tags
Green List (high evidence)	SLC13A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green List (high evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green List (high evidence)	SLC16A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrocyte lactate transporter defect, MIM# 245340 Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021 Monocarboxylate transporter 1 deficiency, MIM# 616095 Tags
Green List (high evidence)	SLC16A12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 47, juvenile, with microcornea, MIM# 612018 Tags
Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green List (high evidence)	SLC17A5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Salla disease 604369 MONDO:0011449 Sialic acid storage disorder, infantile 269920 MONDO:0010027 Tags founder
Green List (high evidence)	SLC17A8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 25, MIM# 605583 Tags
Green List (high evidence)	SLC18A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green List (high evidence)	SLC18A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239 Tags
Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Tags
Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green List (high evidence)	SLC1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 41, MIM# 617105 Tags
Green List (high evidence)	SLC1A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6, MIM# 612656 Tags
Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 MONDO:0014725 Tags founder
Green List (high evidence)	SLC20A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related Tags
Green List (high evidence)	SLC20A2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 1, MIM# 213600 ?hereditary multiple exostoses Tags
Green List (high evidence)	SLC22A12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypouricemia, renal, MIM# 220150, MONDO:0020728 Tags
Green List (high evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 Tags treatable
Green List (high evidence)	SLC24A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450 Tags
Green List (high evidence)	SLC24A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IIA5, MIM# 615887 Tags
Green List (high evidence)	SLC24A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type VI, MIM# 113750 Tags
Green List (high evidence)	SLC25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 Tags
Green List (high evidence)	SLC25A12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green List (high evidence)	SLC25A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 Citrullinemia, adult-onset type II, MIM# 603471 Tags
Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970 Tags
Green List (high evidence)	SLC25A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, Amish type, MIM#607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Tags
Green List (high evidence)	SLC25A20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM# 212138 Tags treatable
Green List (high evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 3, MIM# 609304 Tags
Green List (high evidence)	SLC25A24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fontaine progeroid syndrome, MIM#612289 Tags
Green List (high evidence)	SLC25A26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 28, MIM# 616794 Tags
Green List (high evidence)	SLC25A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial phosphate carrier deficiency, MIM# 610773 Tags
Green List (high evidence)	SLC25A32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Exercise intolerance, riboflavin-responsive, MIM# 616839 Tags
Green List (high evidence)	SLC25A36	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Tags
Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green List (high evidence)	SLC25A4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Tags
Green List (high evidence)	SLC25A42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Tags founder
Green List (high evidence)	SLC25A46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC26A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achondrogenesis 1B, MIM#600972 Atelosteogenesis, type II, MIM#256050 Diastrophic dysplasia, MIM#222600 Epiphyseal dysplasia, multiple, 4, MIM#226900 Tags
Green List (high evidence)	SLC26A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 1, secretory chloride, congenital, MIM# 214700 Tags
Green List (high evidence)	SLC26A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 Pendred syndrome 274600 Tags
Green List (high evidence)	SLC26A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital hypothyroidism, MONDO:0018612, SLC26A7-related Tags
Green List (high evidence)	SLC26A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes non-syndromic male infertility due to sperm motility disorder MONDO:0017173 Tags
Green List (high evidence)	SLC27A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis prematurity syndrome, MIM#608649 Tags
Green List (high evidence)	SLC29A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Tags
Green List (high evidence)	SLC2A1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777 Dystonia 9, MIM#601042 Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885 GLUT1 deficiency syndrome 2, childhood onset, MIM#612126 {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847 Tags
Green List (high evidence)	SLC2A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial tortuosity syndrome, MIM# 208050 Tags
Green List (high evidence)	SLC2A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi-Bickel syndrome, MIM# 227810 Tags
Green List (high evidence)	SLC2A9	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypouricaemia, renal, 2, MIM# 612076 Tags
Green List (high evidence)	SLC30A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypermanganesemia with dystonia 1, MIM# 613280 Tags
Green List (high evidence)	SLC30A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Zinc deficiency, transient neonatal , MIM#608118 Tags
Green List (high evidence)	SLC30A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Birk-Landau-Perez syndrome (MIM#617595) Tags
Green List (high evidence)	SLC32A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 Developmental and epileptic encephalopathy 114, MIM# 620774 Tags
Green List (high evidence)	SLC33A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Spastic paraplegia 42, autosomal dominant, MIM# 612539 Tags
Green List (high evidence)	SLC34A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypercalcaemia, infantile, 2 MIM#616963 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286 Tags
Green List (high evidence)	SLC34A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary alveolar microlithiasis, MIM# 265100 Tags
Green List (high evidence)	SLC34A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets with hypercalciuria, (MIM#241530) Tags
Green List (high evidence)	SLC35A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Green List (high evidence)	SLC35A2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854 Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Tags somatic
Green List (high evidence)	SLC35A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, mental retardation, and seizures OMIM #615553 Skeletal dysplasia Congenital disorder of glycosylation Tags
Green List (high evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green List (high evidence)	SLC35D1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schneckenbecken dysplasia, MIM 269250, MONDO:0010013 O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green List (high evidence)	SLC37A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes retinitis pigmentosa, MONDO:0019200 Tags
Green List (high evidence)	SLC37A4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib 232220 Glycogen storage disease Ic 232240 Congenital disorder of glycosylation Tags
Green List (high evidence)	SLC38A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 102, MIM# 619881 Tags
Green List (high evidence)	SLC38A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Tags
Green List (high evidence)	SLC39A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350 Tags
Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypermanganesemia with dystonia 2, MIM# 617013 Tags
Green List (high evidence)	SLC39A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrodermatitis enteropathica, MIM# 201100 Tags
Green List (high evidence)	SLC39A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Agammaglobulinaemia 9, autosomal recessive, MIM# 619693 Antibody deficiency early onset infections blistering dermatosis failure to thrive thrombocytopaenia Tags
Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags
Green List (high evidence)	SLC3A1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cystinuria, MIM# 220100 Tags
Green List (high evidence)	SLC40A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemochromatosis, type 4, MIM# 606069 Tags
Green List (high evidence)	SLC44A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green List (high evidence)	SLC45A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Tags
Green List (high evidence)	SLC45A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type IV, MIM# 606574 MONDO:0011683 Tags
Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Green List (high evidence)	SLC4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cryohydrocytosis MIM# 185020 Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 Ovalocytosis, SA type MIM# 166900 Spherocytosis, type 4 MIM# 612653 Distal renal tubular acidosis 1 MIM# 179800 Tags
Green List (high evidence)	SLC4A10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Tags
Green List (high evidence)	SLC4A11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268 Corneal endothelial dystrophy and perceptive deafness, MIM# 217400 Corneal endothelial dystrophy, autosomal recessive, MIM# 217700 Tags
Green List (high evidence)	SLC4A3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Short QT syndrome 7, MIM#620231 Tags
Green List (high evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Hemiplegic migraine Tags
Green List (high evidence)	SLC52A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green List (high evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 Tags
Green List (high evidence)	SLC5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glucose/galactose malabsorption, MIM# 606824 Tags
Green List (high evidence)	SLC5A2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal glucosuria, MIM# 233100 Tags
Green List (high evidence)	SLC5A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid dyshormonogenesis 1, MIM# 274400 MONDO:0020716 Tags
Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903 Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green List (high evidence)	SLC5A7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580 MONDO:0008024 Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 Tags
Green List (high evidence)	SLC6A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoclonic-atonic epilepsy, MIM#616421 Tags
Green List (high evidence)	SLC6A19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hartnup disorder, MIM# 234500 Hyperglycinuria, MIM# 138500 Iminoglycinuria, MIM# 242600 Tags
Green List (high evidence)	SLC6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
Green List (high evidence)	SLC6A5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperekplexia 3, MIM# 614618 Tags
Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green List (high evidence)	SLC6A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycine encephalopathy with normal serum glycine, MIM# 617301 Tags
Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lysinuric protein intolerance, MIM# 222700 Tags
Green List (high evidence)	SLC7A9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cystinuria, MIM# 220100 Tags
Green List (high evidence)	SLC9A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 8, secretory sodium, congenital 616868 Tags
Green List (high evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278 Tags
Green List (high evidence)	SLCO1B1	2 reviews 1 green 1 red	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperbilirubinemia, Rotor type, digenic 237450 Tags
Green List (high evidence)	SLCO1B3	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperbilirubinemia, Rotor type, digenic, MIM# 237450 Tags
Green List (high evidence)	SLCO2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related Tags
Green List (high evidence)	SLF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 1, MIM# 620184 Tags
Green List (high evidence)	SLFN14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 20, MIM# 616913 Tags
Green List (high evidence)	SLITRK2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked 111, MIM# 301107 Tags
Green List (high evidence)	SLITRK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness and myopia, MIM#221200 Tags
Green List (high evidence)	SLURP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meleda disease (MIM#248300) Tags
Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group P, MIM# 613951 MONDO:0013499 Tags
Green List (high evidence)	SMAD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657 Tags
Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050 Polyposis, juvenile intestinal, MIM# 174900 Myhre syndrome, MIM# 139210 Tags
Green List (high evidence)	SMAD6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Radioulnar synostosis, nonsyndromic} 179300 {Craniosynostosis 7, susceptibility to} 617439 Aortic valve disease 2 MIM# 614823 Tags
Green List (high evidence)	SMAD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, primary, 2 MIM#615342 Tags
Green List (high evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nicolaides-Baraitser syndrome, MIM #601358 Blepharophimosis-intellectual disability syndrome, MIM#619293 Tags
Green List (high evidence)	SMARCA4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 4, MIM# 614609 Otosclerosis MONDO:0005349, SMARCA4-related Tags
Green List (high evidence)	SMARCA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder microcephaly dysmorphic features Tags
Green List (high evidence)	SMARCAD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Huriez syndrome, OMIM #181600 Basan syndrome, MIM# 129200 Adermatoglyphia, MIM# 136000 Tags
Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schimke immune-osseous dysplasia MIM# 242900 T cell deficiency Short stature spondyloepiphyseal dysplasia renal dysfunction lymphocytopaenia nephropathy bacterial/viral/fungal infections may present as SCID bone marrow failure Tags
Green List (high evidence)	SMARCB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 3, MIM# 614608 Tags
Green List (high evidence)	SMARCC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hydrocephalus Tags
Green List (high evidence)	SMARCC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 8 OMIM #618362 Tags
Green List (high evidence)	SMARCD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features Tags
Green List (high evidence)	SMARCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Specific granule deficiency 2, MIM# 617475 Neutropaenia Neurodevelopmental abnormalities in some Myelodysplasia Tags
Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 5, MIM# 616938 {Meningioma, familial, susceptibility to} 607174 Tags
Green List (high evidence)	SMC1A	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2, MIM# 300590 Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Tags
Green List (high evidence)	SMC3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 3, MIM#610759 Tags
Green List (high evidence)	SMC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 2, MIM# 620185 Tags
Green List (high evidence)	SMCHD1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bosma arhinia microphthalmia syndrome, MIM 603457 Arhinia, choanal atresia, microphthalmia MONDO:0011323 Fascioscapulohumeral muscular dystrophy 2, digenic Tags
Green List (high evidence)	SMG8	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alzahrani-Kuwahara syndrome, MIM# 619268 Intellectual disability Tags
Green List (high evidence)	SMG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heart and brain malformation syndrome, MIM# 616920 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995 Tags
Green List (high evidence)	SMN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy-1, MIM# 253300 Tags clinical trial SV/CNV treatable
Green List (high evidence)	SMO	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800 Curry-Jones syndrome, somatic mosaic 601707 Tags
Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia with limb anomalies, MIM# 206920 Tags
Green List (high evidence)	SMOC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400 Tags
Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Niemann-Pick disease, type B, MIM# 607616 MONDO:0011871 Tags
Green List (high evidence)	SMPD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe neurodevelopmental delay, microcephaly, arthrogryposis Tags
Green List (high evidence)	SMPX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 4, MIM# 300066 Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Tags
Green List (high evidence)	SMS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 Tags
Green List (high evidence)	SNAP25	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, SNAP25-related Myasthenic syndrome, congenital, 18, MIM# 616330 Tags
Green List (high evidence)	SNAP29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528 Tags
Green List (high evidence)	SNAPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Tags
Green List (high evidence)	SNF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783 Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Tags
Green List (high evidence)	SNORA31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396 Tags
Green List (high evidence)	SNORD118	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags
Green List (high evidence)	SNRNP200	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 33 (MIM# 610359) Tags
Green List (high evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrocostomandibular syndrome, MIM# 117650 Tags 5'UTR deep intronic
Green List (high evidence)	SNRPE	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Amber Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypotrichosis 11 OMIM #615059 Tags
Green List (high evidence)	SNUPN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Tags
Green List (high evidence)	SNX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 8, MIM# 615085 Tags
Green List (high evidence)	SNX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Tags
Green List (high evidence)	SNX27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes intellectual disability seizures Tags
Green List (high evidence)	SOCS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Common variable immunodeficiency Early-onset autoimmunity Tags
Green List (high evidence)	SOHLH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ovarian dysgenesis 5 MIM#617690 Spermatogenic failure 32 MIM#618115 Tags
Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ZTTK syndrome, MIM# 617140 Tags
Green List (high evidence)	SORD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes isolated hereditary neuropathy Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912 Tags
Green List (high evidence)	SOS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Fibromatosis, gingival, 1, 135300 Noonan syndrome 4, 610733 Tags
Green List (high evidence)	SOS2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 9, MIM#616559, AD Tags
Green List (high evidence)	SOST	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sclerosteosis 1, OMIM#269500 Craniodiaphyseal dysplasia, OMIM#122860 Tags SV/CNV
Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kallman syndrome PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266) Tags
Green List (high evidence)	SOX11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Congenital abnormalities of the kidneys and urinary tract Tags
Green List (high evidence)	SOX17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vesicoureteral reflux 3 MIM#613674 Pulmonary arterial hypertension, MONDO:0015924 Tags
Green List (high evidence)	SOX18	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 Tags
Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green List (high evidence)	SOX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 10 OMIM #618506 Tags
Green List (high evidence)	SOX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lamb-Shaffer syndrome, MIM# 616803 Tags SV/CNV
Green List (high evidence)	SOX6	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ADHD Craniosynostosis Osteochondromas Tolchin-Le Caignec syndrome, MIM#618971 Tags
Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Campomelic dysplasia, MIM# 114290 Campomelic dysplasia, MONDO:0007251 Tags
Green List (high evidence)	SP110	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 Hepatic veno-occlusive disease susceptibility to Pneumocystis jirovecii pneumonia cytomegalovirus thrombocytopaenia hepatosplenomegaly cerebrospinal leukodystrophy memory T/B cell deficiency low Ig levels absent tissue plasma cells absent lymph node germinal centers hypogammaglobulinaemia Tags founder
Green List (high evidence)	SP6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Amelogenesis imperfecta, type IK, MIM# 620104 Tags
Green List (high evidence)	SP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849 Tags
Green List (high evidence)	SP9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, SP9-related Tags
Green List (high evidence)	SPAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 28 (MIM#615505) Tags
Green List (high evidence)	SPARC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XVII, MIM# 616507 Tags
Green List (high evidence)	SPAST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 4, autosomal dominant (MIM#182601), AD Tags
Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green List (high evidence)	SPATA5L1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Deafness, autosomal recessive 119, MIM# 619615 Tags
Green List (high evidence)	SPATA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 3, MIM#604232 Autosomal recessive juvenile retinitis pigmentosa, MIM#604232 Tags
Green List (high evidence)	SPECC1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertelorism, Teebi type, MIM# 145420 Opitz GBBB syndrome, type II, MIM#145410 Tags
Green List (high evidence)	SPEF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spermatogenic failure 43, MIM#618751 Spermatogenic failure 43, MIM#618751 Primary ciliary dyskinesia-like phenotype Tags
Green List (high evidence)	SPEG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Centronuclear myopathy 5, MIM# 615959 Dilated cardiomyopathy Tags
Green List (high evidence)	SPEN	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome, MIM# 619312 Intellectual disability autism congenital anomalies Tags
Green List (high evidence)	SPG21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mast syndrome, MIM# 248900 Tags new gene name
Green List (high evidence)	SPG7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Autosomal dominant optic atrophy, MONDO:0020250 Tags
Green List (high evidence)	SPI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Agammaglobulinaemia 10, autosomal dominant, MIM# 619707 Tags
Green List (high evidence)	SPINK1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tropical calcific pancreatitis, MIM# 608189 Pancreatitis, hereditary, MIM# 167800 Tags
Green List (high evidence)	SPINK5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Netherton syndrome MIM# 256500 Tags
Green List (high evidence)	SPINT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 3, secretory sodium, congenital, syndromic 270420 MONDO:0010036 Tags founder
Green List (high evidence)	SPOP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphism microcephaly macrocephaly Tags
Green List (high evidence)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
Green List (high evidence)	SPRED1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Legius syndrome, MIM# 611431 Tags
Green List (high evidence)	SPRED2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Noonan syndrome 14, MIM# 619745 Tags
Green List (high evidence)	SPRTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ruijs-Aalfs syndrome, MIM# 616200 MONDO:0014527 Tags
Green List (high evidence)	SPTA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Elliptocytosis-2 MIM# 130600 Pyropoikilocytosis MIM# 266140 Spherocytosis, type 3 MIM# 270970 Tags
Green List (high evidence)	SPTAN1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477 Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 Tags
Green List (high evidence)	SPTB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spherocytosis, type 2 MIM# 616649 Elliptocytosis-3 MIM# 617948 Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948 Tags
Green List (high evidence)	SPTBN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Neurodevelopmental Syndrome Intellectual disability Seizures Tags
Green List (high evidence)	SPTBN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Spinocerebellar ataxia 5, MIM# 600224 Tags
Green List (high evidence)	SPTBN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) Tags
Green List (high evidence)	SPTLC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Juvenile amyotrophic lateral sclerosis-27, MIM#620285 Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green List (high evidence)	SPTLC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 MONDO:0013337 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green List (high evidence)	SQSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green List (high evidence)	SRC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia 6, MIM# 616937 Tags
Green List (high evidence)	SRCAP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Floating-Harbor syndrome MIM#136140 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595 Tags
Green List (high evidence)	SRD5A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudovaginal perineoscrotal hypospadias, MIM# 264600 Tags
Green List (high evidence)	SRD5A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iq, MIM#612379 Kahrizi syndrome, MIM# 612713 Tags
Green List (high evidence)	SREBF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 Mucoepithelial dysplasia, hereditary, MIM#158310 Tags
Green List (high evidence)	SRP54	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags
Green List (high evidence)	SRPK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Intellectual developmental disorder, X-linked, 114, MIM#301134 Tags digenic
Green List (high evidence)	SRRM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 Tags
Green List (high evidence)	SRSF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489 Tags
Green List (high evidence)	SRY	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 46XX sex reversal 1, MIM# 400045 46XY sex reversal 1 , MIM#400044 Tags
Green List (high evidence)	SSBP1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy with or without extraocular phenotypes Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Tags
Green List (high evidence)	SSR4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iy, MIM# 300934 Tags
Green List (high evidence)	ST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400 Tags
Green List (high evidence)	ST3GAL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 12 MIM# 611090 Tags
Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency, MONDO:0018274 Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags founder
Green List (high evidence)	STAB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperferritinemia, MIM# 620729 Tags
Green List (high evidence)	STAC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, congenital, Baily-Bloch, MIM# 255995 Tags founder
Green List (high evidence)	STAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 47, MIM# 617635 Tags
Green List (high evidence)	STAG2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Phenotypes Mullegama-Klein-Martinez syndrome, MIM#301022 Tags
Green List (high evidence)	STAG3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Premature ovarian failure 8 MIM#615723 Spermatogenic failure 61, MIM# 619672 Tags
Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green List (high evidence)	STAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipoid adrenal hyperplasia (MIM#201710) Tags
Green List (high evidence)	STAT1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796 Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162 Tags
Green List (high evidence)	STAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 44, MIM# 616636 Pseudo-TORCH syndrome 3, MIM# 618886 Tags
Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Tags
Green List (high evidence)	STAT4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Disabling pansclerotic morphea of childhood MIM#620443 Tags
Green List (high evidence)	STAT5B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity with immunodeficiency, MIM# 245590 Tags somatic
Green List (high evidence)	STAT6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532 Tags
Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 7, primary, autosomal recessive, MIM# 612703 MONDO:0012989 Tags
Green List (high evidence)	STIM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 10 612783 Myopathy, tubular aggregate, 1 160565 Stormorken syndrome 185070 Tags
Green List (high evidence)	STK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868 CD4/CD8 lymphopaenia cardiac malformations reduced naïve T cells increased TEM and TEMRA cells poor T cell Proliferation Reduced memory B cells Reduced IgM, increased IgG, IgA, IgE impaired antibody responses intermittent neutropaenia bacterial/ viral/ fungal infections autoimmune cytopaenias mucocutaneous candidiasis cutaneous warts Tags
Green List (high evidence)	STN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated, with coloboma 8, MIM# 601186 Microphthalmia, syndromic 9, MIM# 601186 Tags
Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 Tags
Green List (high evidence)	STRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 16, MIM# 603720 Tags SV/CNV
Green List (high evidence)	STS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, X-linked 308100 Sterol metabolism disorder Tags SV/CNV
Green List (high evidence)	STT3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green List (high evidence)	STUB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Spinocerebellar ataxia 48, MIM#618093 Tags
Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552 Tags
Green List (high evidence)	STX16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudohypoparathyroidism type 1b MIM#: 603233 Tags
Green List (high evidence)	STX1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, STX1A-related Tags
Green List (high evidence)	STX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Green List (high evidence)	STX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microvillus inclusion disease, MIM#619445 Retinal dystrophy and microvillus inclusion disease, MIM#619446 Tags
Green List (high evidence)	STXBP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Rett syndrome Rett-like phenotypes Tags
Green List (high evidence)	STXBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101 Tags
Green List (high evidence)	STXBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Very Early Onset Inflammatory Bowel Disease Bilateral Sensorineural Hearing Loss Immune Dysregulation Tags
Green List (high evidence)	SUCLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Tags
Green List (high evidence)	SUCLG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 Tags
Green List (high evidence)	SUFU	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 SUFU-related neurodevelopmental syndrome Basal cell nevus syndrome, MIM# 109400 Tags
Green List (high evidence)	SULT2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 14, MIM# 617571 Tags
Green List (high evidence)	SUMF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple sulfatase deficiency (MIM#272200) Tags
Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sulfite oxidase deficiency, MIM# 272300 Tags
Green List (high evidence)	SUPT16H	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480 Intellectual disability Abnormality of the corpus callosum Tags
Green List (high evidence)	SURF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 4K MIM#616684 Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 Tags
Green List (high evidence)	SUZ12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Imagawa-Matsumoto syndrome, MIM# 618786 Tags
Green List (high evidence)	SVBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM #618569 Tags founder
Green List (high evidence)	SYCE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Premature ovarian failure 12, MIM# 616947 Spermatogenic failure 15 ,MIM#616950 Tags
Green List (high evidence)	SYCP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Male infertility Tags
Green List (high evidence)	SYCP2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Premature ovarian failure 24, MIM# 620840 Tags
Green List (high evidence)	SYK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381 Tags
Green List (high evidence)	SYN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491 Intellectual developmental disorder, X-linked 50, MIM# 300115 Tags
Green List (high evidence)	SYNCRIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags
Green List (high evidence)	SYNE1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, myogenic type, MIM# 618484 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998 Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743 Tags
Green List (high evidence)	SYNE4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 76, MIM# 615540 Tags
Green List (high evidence)	SYNGAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 5 (MIM # 612621) Tags
Green List (high evidence)	SYNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 53, MIM# 617389 Parkinson disease 20, early-onset, MIM# 615530 Tags
Green List (high evidence)	SYP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 96 MIM#300802 Tags
Green List (high evidence)	SYT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baker-Gordon syndrome, MIM# 618218 MONDO:0033864 Tags
Green List (high evidence)	SYT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 Tags
Green List (high evidence)	SZT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 18, OMIM #615476 Tags
Green List (high evidence)	TAB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags SV/CNV
Green List (high evidence)	TAC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839 Tags
Green List (high evidence)	TACO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052 Tags
Green List (high evidence)	TACR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840 Tags
Green List (high evidence)	TACSTD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, gelatinous drop-like, MIM# 204870 Tags
Green List (high evidence)	TAF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia-Parkinsonism, X-linked, MIM# 314250 Mental retardation, X-linked, syndromic 33, MIM# 300966 Tags deep intronic founder
Green List (high evidence)	TAF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 40, MIM# 615599 Tags
Green List (high evidence)	TAF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 Tags
Green List (high evidence)	TAF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alazami-Yuan syndrome, MIM# 617126 Tags
Green List (high evidence)	TAF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Tags
Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Transaldolase deficiency , MIM#606003 Tags
Green List (high evidence)	TAMM41	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 hypotonia developmental delay myopathy ptosis Tags
Green List (high evidence)	TANC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism epilepsy dysmorphism Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906 Tags
Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 Tags
Green List (high evidence)	TAOK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575 TAOK1-related neurodevelopmental disorder Tags
Green List (high evidence)	TAOK2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, TAOK2-related Generalized verrucosis abnormal T cell activation autism Tags
Green List (high evidence)	TAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type I MIM#604571 Low CD8 absent MHC I on lymphocytes vasculitis pyoderma gangrenosum skin lesions recurrent respiratory tract infections bronchiectasis Tags
Green List (high evidence)	TAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MHC class I deficiency 2, MIM# 620813 Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571 Low CD8 absent MHC I on lymphocytes Vasculitis pyoderma gangrenosum recurrent bacterial/viral respiratory infections bronchiectasis Tags
Green List (high evidence)	TARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 21, MIM# 615918 Tags
Green List (high evidence)	TASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay microcephaly dysmorphic features congenital abnormalities Suleiman-El-Hattab syndrome, MIM#618950 Tags
Green List (high evidence)	TAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Tyrosinaemia, type II, MIM# 276600 Tags treatable
Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Barth syndrome, MIM# 302060 Tags
Green List (high evidence)	TBC1D1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT Non-syndromic renal or urinary tract malformation, MONDO:0019720 Tags
Green List (high evidence)	TBC1D20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 4, MIM# 615663 Martsolf syndrome Tags
Green List (high evidence)	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 11, MIM# 617695 Tags
Green List (high evidence)	TBC1D24	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 65 MIM#616044 Deafness, autosomal recessive 86 MIM#614617 Developmental and epileptic encephalopathy 16 MIM#615338 DOORS syndrome MIM#220500 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105 Myoclonic epilepsy, infantile, familial MIM#605021 Tags
Green List (high evidence)	TBC1D2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323 Global developmental delay Intellectual disability Seizures Gingival overgrowth Behavioral abnormality Abnormality of the mandible Abnormality of brain morphology Abnormality of the eye Hearing abnormality Tags
Green List (high evidence)	TBC1D32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX syndromic hypopituitarism Tags
Green List (high evidence)	TBC1D7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000 Tags
Green List (high evidence)	TBC1D8B	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 20, MIM# 301028 Tags
Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy Hypoparathyroidism-retardation-dysmorphism syndrome Kenny-Caffey syndrome, type 1 Tags
Green List (high evidence)	TBCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green List (high evidence)	TBL1X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Tags
Green List (high evidence)	TBL1XR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Green List (high evidence)	TBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with autism and speech delay, MIM# 606053 Tags
Green List (high evidence)	TBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Decreased T cells Hypoparathyroidism Conotruncal cardiac malformation velopalatal insufficiency abnormal facies (cleft palate, prominent tubular nose etc) intellectual disability Immunodeficiency thymic hypoplasia or aplasia with resultant T‐cell dysfunction renal anomalies autoimmunity Tags SV/CNV
Green List (high evidence)	TBX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cousin syndrome, MIM# 260660 Tags
Green List (high evidence)	TBX18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract 2, MIM# 143400 Tags
Green List (high evidence)	TBX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenocorticotropic hormone deficiency, 201400 Tags
Green List (high evidence)	TBX20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 4, MIM# 611363 Tags
Green List (high evidence)	TBX22	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft palate with ankyloglossia, MIM# 303400 Abruzzo-Erickson syndrome, MIM# 302905 Tags
Green List (high evidence)	TBX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ulnar-mammary syndrome, MIM# 181450 MONDO:0008411 Tags
Green List (high evidence)	TBX4	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891 Tags
Green List (high evidence)	TBX5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holt-Oram syndrome, MIM# 142900 Tags
Green List (high evidence)	TBX6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 5, 122600 Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related Tags
Green List (high evidence)	TBXAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ghosal hematodiaphyseal syndrome, MIM# 231095 Tags
Green List (high evidence)	TCAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954 Tags
Green List (high evidence)	TCEAL1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Tags
Green List (high evidence)	TCF12	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 3, MIM# 615314 Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718 Kallman syndrome Tags
Green List (high evidence)	TCF20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430 Tags
Green List (high evidence)	TCF3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Tags
Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins syndrome, MIM# 610954 Tags
Green List (high evidence)	TCF7L2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Global developmental delay Intellectual disability Autism Attention deficit hyperactivity disorder Myopia Abnormality of skeletal system Tags
Green List (high evidence)	TCIRG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 1, MIM# 259700 Tags
Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Transcobalamin II deficiency, 275350 Tags
Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 1, MIM# 154500 Tags
Green List (high evidence)	TCP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Tags
Green List (high evidence)	TCTEX1D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 Tags
Green List (high evidence)	TCTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608 Tags
Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 Mohr-Majewski syndrome Meckel-Gruber syndrome Tags
Green List (high evidence)	TDP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 23 OMIM #616949 Tags
Green List (high evidence)	TDRD7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 36, 613887 glaucoma nonobstructive azoospermia arrested spermatogenesis Tags
Green List (high evidence)	TECPR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 49, autosomal recessive, MIM# 615031 Autonomic-sensory neuropathy Tags
Green List (high evidence)	TECRL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 Tags
Green List (high evidence)	TECTA	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 21 603629 Deafness, autosomal dominant 8/12 601543 Tags
Green List (high evidence)	TEFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green List (high evidence)	TEK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glaucoma 3, primary congenital, E, MIM# 617272 Venous malformations, multiple cutaneous and mucosal, MIM# 600195 Tags
Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes You-Hoover-Fong syndrome, MIM#616954 Syndromic intellectual disability Tags
Green List (high evidence)	TENM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 15, MIM#615145 coloboma Tags
Green List (high evidence)	TERC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Tags
Green List (high evidence)	TERT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags
Green List (high evidence)	TET2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dementia Lymphoma/myeloid malignancy Immunodeficiency-75 (IMD75), MIM#619126 Pulmonary arterial hypertension MONDO:0015924, TET2-related Tags
Green List (high evidence)	TET3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Beck-Fahrner syndrome MIM#618798 Tags
Green List (high evidence)	TF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atransferrinaemia MIM# 209300 iron overload hypochromic anaemia low serum transferrin Hemosiderosis of the heart and/or liver Congestive heart failure Tags
Green List (high evidence)	TFAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Perrault syndrome Tags
Green List (high evidence)	TFAP2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Branchiooculofacial syndrome, MIM 113620 Tags
Green List (high evidence)	TFAP2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Char syndrome, MIM# 169100 Patent ductus arteriosus 2, MIM# 617035 Syndromic craniosynostosis Tags
Green List (high evidence)	TFE3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066 Intellectual disability Epilepsy Coarse facial features Tags
Green List (high evidence)	TFG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 Spastic paraplegia 57, autosomal recessive, MIM# 615658 Tags
Green List (high evidence)	TFR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemochromatosis, type 3 (MIM#604250) Tags
Green List (high evidence)	TG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid dyshormonogenesis 3, MIM# 274700 Tags
Green List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Catel-Manzke syndrome, MIM# 616145 Tags
Green List (high evidence)	TGFB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213 Camurati-Engelmann disease, MIM# 131300 Tags
Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 4, MIM# 614816 Tags
Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 5, MIM# 615582 Tags
Green List (high evidence)	TGFBI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, multiple types, MONDO:0000764 Tags
Green List (high evidence)	TGIF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 4, MIM# 142946 MONDO:0007734 Tags
Green List (high evidence)	TGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 1, MIM#242300 Tags
Green List (high evidence)	TGM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peeling skin syndrome 2, MIM# 609796 Tags
Green List (high evidence)	THAP1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 6, torsion, 602629 MONDO:0011264 Tags
Green List (high evidence)	THBD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 Bleeding disorder Tags
Green List (high evidence)	THBS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital glaucoma MONDO:0020366, THBS1-related Tags
Green List (high evidence)	THG1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 Tags
Green List (high evidence)	THOC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 12/35 MIM#300957 Tags
Green List (high evidence)	THOC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Beaulieu-Boycott-Innes syndrome, MIM# 613680 Tags
Green List (high evidence)	THPO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocythemia 1, MIM# 187950 Thrombocytopenia 9, MIM# 620478 Tags
Green List (high evidence)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Tags
Green List (high evidence)	THRB	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid hormone resistance, MIM# 188570 Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, selective pituitary, MIM# 145650 Tags
Green List (high evidence)	THSD1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aneurysm, intracranial berry, 12 , MIM# 618734 Lymphatic malformation 13, MIM# 620244 Tags
Green List (high evidence)	THUMPD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 Tags
Green List (high evidence)	TIAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Tags
Green List (high evidence)	TICAM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850 Tags
Green List (high evidence)	TIE1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 11, MIM# 619401 Tags
Green List (high evidence)	TIMM50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type IX, MIM# 617698 Tags
Green List (high evidence)	TIMM8A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Green List (high evidence)	TIMMDC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 31 MIM#618251 Tags deep intronic
Green List (high evidence)	TIMP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sorsby fundus dystrophy, MIM# 136900 Tags
Green List (high evidence)	TINF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Revesz syndrome, MIM# 268130 Tags
Green List (high evidence)	TJP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 4, MIM# 615878 Hypercholanemia, familial 1, MIM# 607748 Tags
Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MIM# 617069 Tags
Green List (high evidence)	TLE6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Preimplantation embryonic lethality, MIM# 616814 Tags
Green List (high evidence)	TLK2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, MIM 618050 Neurodevelopmental disease Tags
Green List (high evidence)	TLL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 6, MIM# 613087 Tags
Green List (high evidence)	TLR3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 83, susceptibility to viral infections, MIM# 613002 Tags
Green List (high evidence)	TLR7	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 Systemic lupus erythematosus 17, MIM# 301080 Tags
Green List (high evidence)	TLR8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags somatic
Green List (high evidence)	TMC1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 36, MIM# 606705 Deafness, autosomal recessive 7, MIM# 600974 Tags
Green List (high evidence)	TMC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermodysplasia verruciformis, MIM# 226400 Tags
Green List (high evidence)	TMC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermodysplasia verruciformis 2, MIM# 618231 Tags
Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980 Tags
Green List (high evidence)	TMEFF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related HSV encephalitis Tags
Green List (high evidence)	TMEM106B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 16, MIM# 617964 Tags
Green List (high evidence)	TMEM107	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563) Joubert syndrome 29, MIM# 617562 Tags
Green List (high evidence)	TMEM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 7, MIM# 612989 MONDO:0013069 Syndromic auditory neuropathy spectrum disorder Tags
Green List (high evidence)	TMEM126B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250 Tags
Green List (high evidence)	TMEM127	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Pheochromocytoma, susceptibility to} 171300 Tags
Green List (high evidence)	TMEM138	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 16, MIM# 614465 MONDO:0013764 Tags
Green List (high evidence)	TMEM147	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075 Tags
Green List (high evidence)	TMEM151A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes episodic kinesigenic dyskinesia MONDO:0044202 Tags
Green List (high evidence)	TMEM163	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green List (high evidence)	TMEM173	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes STING-associated vasculopathy, infantile-onset, MIM# 615934 Tags
Green List (high evidence)	TMEM199	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIp MIM# 616829 Tags
Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296 Retinitis pigmentosa, MONDO:0019200, TMEM216-related Tags founder UTR
Green List (high evidence)	TMEM218	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39, MIM#619562 retinal dystrophy polycystic kidneys occipital encephalocele Tags
Green List (high evidence)	TMEM222	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470 Intellectual disability Epilepsy Microcephaly Tags
Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164 Tags
Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green List (high evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 21, MIM# 607454 Tags
Green List (high evidence)	TMEM260	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Structural heart defects and renal anomalies syndrome, MIM# 617478 Tags
Green List (high evidence)	TMEM38B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIV, MIM# 615066 Tags
Green List (high evidence)	TMEM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Tags new gene name
Green List (high evidence)	TMEM53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary bone dysplasia MONDO:0018230, TMEM53-related Sclerosing bone disorder, macrocephaly, impaired vision, short stature Tags
Green List (high evidence)	TMEM63A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688 Tags
Green List (high evidence)	TMEM63B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related Tags
Green List (high evidence)	TMEM63C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 87, autosomal recessive, MIM# 619966 Tags
Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Nephronophthisis 11, MIM# 613550 COACH syndrome 1, MIM# 216360 Tags
Green List (high evidence)	TMEM70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052 Tags
Green List (high evidence)	TMEM94	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 Tags
Green List (high evidence)	TMEM98	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nanophthalmos 4 MIM#615972 Tags
Green List (high evidence)	TMIE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 6, MIM# 600971 Tags
Green List (high evidence)	TMPRSS15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Enterokinase deficiency, MIM# 226200 Tags
Green List (high evidence)	TMPRSS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 8/10, MIM#601072 Tags
Green List (high evidence)	TMPRSS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Iron-refractory iron deficiency anaemia MIM# 206200 Iron malabsorption hypochromic microcytic anaemia Tags
Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 8 (MIM#617255) Tags
Green List (high evidence)	TMX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly ID brain malformations Tags
Green List (high evidence)	TNFAIP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744 Inflammatory bowel disease Tags
Green List (high evidence)	TNFRSF11A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 7 - MIM# 612301 Tags
Green List (high evidence)	TNFRSF11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Paget disease of bone 5, juvenile-onset, MIM# 239000 Tags
Green List (high evidence)	TNFRSF13B	2 reviews 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 2, MIM# 240500 Tags
Green List (high evidence)	TNFRSF1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Periodic fever, familial, MIM# 142680 Tags
Green List (high evidence)	TNFRSF9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 109 with lymphoproliferation, MIM# 620282 EBV lymphoproliferation B-cell lymphoma Chronic active EBV infection Tags
Green List (high evidence)	TNFSF11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 2, MIM# 259710 Tags
Green List (high evidence)	TNNC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1Z, MIM# 611879 Cardiomyopathy, hypertrophic, 13 (MIM# 613243) Tags
Green List (high evidence)	TNNC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Myopathy, congenital, with neonatal respiratory insufficiency, MIM# 620161 Tags
Green List (high evidence)	TNNI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2B1 (MIM#601680) Tags
Green List (high evidence)	TNNI3K	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117 Tags
Green List (high evidence)	TNNT1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 5, Amish type, MIM# 605355 Nemaline myopathy-5B with rigid spine and respiratory insufficiency (NEM5B), MIM#620386 nemaline myopathy-5C (NEM5C), autosomal dominant, MIMD620389 Tags
Green List (high evidence)	TNNT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2B2, MIM# 618435 Tags
Green List (high evidence)	TNPO2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green List (high evidence)	TNPO3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423 Tags
Green List (high evidence)	TNR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653 Spastic para- or tetraparesis Axial muscular hypotonia Intellectual disability Transient opisthotonus Tags
Green List (high evidence)	TNRC6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Global developmental delay with speech and behavioural abnormalities, MIM# 619243 Tags
Green List (high evidence)	TNS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome Tags
Green List (high evidence)	TNXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408 Tags
Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 7, MIM# 614969 Tags
Green List (high evidence)	TOGARAM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 37, MIM# 619185 Tags
Green List (high evidence)	TONSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068 Tags
Green List (high evidence)	TOP2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autosomal dominant deafness B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Intellectual disability Tags
Green List (high evidence)	TOP3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098 Tags
Green List (high evidence)	TOPORS	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 31 (MIM#609923) Ciliopathy, MONDO:0005308, TOPORS-associated, AR Tags
Green List (high evidence)	TOR1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, MIM#618947 Dystonia-1, torsion, MIM#128100 Tags
Green List (high evidence)	TOR1AIP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Congenital myasthenic syndrome Tags
Green List (high evidence)	TP53RK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 4, MIM# 617730 Tags
Green List (high evidence)	TP63	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ADULT syndrome, OMIM #103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292 Hay-Wells syndrome, OMIM #106260 Limb-mammary syndrome, OMIM #603543 Orofacial cleft 8, OMIM #618149 Rapp-Hodgkin syndrome, OMIM #129400 Split-hand/foot malformation 4, OMIM #605289 Tags
Green List (high evidence)	TP73	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466 Cortical malformation Lissencephaly Tags
Green List (high evidence)	TPI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, MIM# 615512 Tags
Green List (high evidence)	TPK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458 Tags
Green List (high evidence)	TPM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1A 108120 Arthrogryposis, distal, type 2B4 108120 CAP myopathy 2 609285 Nemaline myopathy 4, autosomal dominant 609285 Multiple pterygium syndrome Tags
Green List (high evidence)	TPM3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAP myopathy 1, MIM# 609284 Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284 Congenital muscle stiffness Tags
Green List (high evidence)	TPM4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 25, MIM# 620486 Tags
Green List (high evidence)	TPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid dyshormonogenesis 2A, MIM# 274500 Tags
Green List (high evidence)	TPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 MONDO:0012235 Tags
Green List (high evidence)	TPP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green List (high evidence)	TPRKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 5, MIM# 617731 Tags
Green List (high evidence)	TPRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 79, MIM# 613307 Tags
Green List (high evidence)	TRA2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 Tags
Green List (high evidence)	TRAF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Tags
Green List (high evidence)	TRAF3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green List (high evidence)	TRAF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Tags
Green List (high evidence)	TRAIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seckel syndrome 9, MIM# 616777 Tags
Green List (high evidence)	TRAK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 68, MIM# 618201 Tags
Green List (high evidence)	TRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT VACTERL Tags
Green List (high evidence)	TRAPPC10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Tags
Green List (high evidence)	TRAPPC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356 Tags
Green List (high evidence)	TRAPPC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 Tags
Green List (high evidence)	TRAPPC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia tarda, MIM# 313400 Tags
Green List (high evidence)	TRAPPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Tags
Green List (high evidence)	TRAPPC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green List (high evidence)	TRAPPC9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 13, MIM# 613192 Tags SV/CNV
Green List (high evidence)	TRDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441 Tags
Green List (high evidence)	TREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 {Alzhieimer disease 17, susceptibility to}, MIM# 615080 Tags
Green List (high evidence)	TREX1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive Chilblain lupus {Systemic lupus erythematosus, susceptibility to} Vasculopathy, retinal, with cerebral leukodystrophy Tags
Green List (high evidence)	TRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573 Tags
Green List (high evidence)	TRIM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 2R, MIM# 615490 MONDO:0014208 Tags
Green List (high evidence)	TRIM22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Inflammatory bowel disease Tags
Green List (high evidence)	TRIM32	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 11, MIM# 615988 Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 Tags
Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mulibrey nanism, MIM# 253250 Tags
Green List (high evidence)	TRIM63	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Green List (high evidence)	TRIM71	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hydrocephalus, congenital communicating, 1 618667 Tags
Green List (high evidence)	TRIM8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures Tags
Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 44, MIM# 617061 Tags
Green List (high evidence)	TRIOBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 28, MIM# 609823 Tags
Green List (high evidence)	TRIP11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteochondrodysplasia, 184260 Achondrogenesis, type IA, 200600 Tags
Green List (high evidence)	TRIP12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752 Tags
Green List (high evidence)	TRIP13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Oocyte maturation defect 9, MIM# 619011 Tags founder
Green List (high evidence)	TRIP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Muscular dystrophy, congenital, Davignon-Chauveau type 617066 Tags
Green List (high evidence)	TRIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green List (high evidence)	TRMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Tags
Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 MONDO:0000208 Tags
Green List (high evidence)	TRMT10C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 30, MIM# 616974 Tags
Green List (high evidence)	TRMT5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 26, MIM# 616539 Tags
Green List (high evidence)	TRMU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Liver failure, transient infantile, MIM# 613070 Tags
Green List (high evidence)	TRNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green List (high evidence)	TRPC6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 2, MIM# 603965 Tags
Green List (high evidence)	TRPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216 Tags
Green List (high evidence)	TRPM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Cataract 50 with or without glaucoma, MIM#620253 Tags
Green List (high evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomagnesaemia 1, intestinal (MIM#602014) Tags
Green List (high evidence)	TRPM7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500 Cardiac arrhythmia, stillbirth Tags
Green List (high evidence)	TRPS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichorhinophalangeal syndrome, type I, OMIM # 190350 Trichorhinophalangeal syndrome, type III, OMIM # 190351 Tags
Green List (high evidence)	TRPV3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Olmsted syndrome, MIM# 614594 Tags
Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hereditary motor and sensory neuropathy, type IIc, MIM# 606071 Neuronopathy, distal hereditary motor, type VIII, MIM# 600175 Tags
Green List (high evidence)	TRPV6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism, transient neonatal, MIM# 618188 Early onset chronic pancreatitis susceptibility Tags
Green List (high evidence)	TRRAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with or without dysmorphic facies and autism (MIM#618454) Tags
Green List (high evidence)	TSEN15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874 Tags
Green List (high evidence)	TSEN2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B, MIM# 612389 Tags
Green List (high evidence)	TSEN54	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2A 277470 Pontocerebellar hypoplasia type 4 225753 Ataxia Tags
Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, MIM# 610505 Tags
Green List (high evidence)	TSHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothyroidism, congenital, nongoitrous 4, MIM# 275100 Tags
Green List (high evidence)	TSHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309 Hyperthyroidism, nonautoimmune, MIM# 609152 Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045 Tags
Green List (high evidence)	TSHZ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aural atresia, congenital, MIM# 607842 Hyposmia Tags
Green List (high evidence)	TSPAN12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 5, MIM# 613310 Tags
Green List (high evidence)	TSPEAR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180 Selective tooth agenesis-10 (STHAG10), MIM#620173 Tags
Green List (high evidence)	TSPOAP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 22, MIM# 620453 Tags
Green List (high evidence)	TSPYL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 Tags
Green List (high evidence)	TTBK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464 Tags
Green List (high evidence)	TTC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia Tags
Green List (high evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 2, MIM#615157 Tags
Green List (high evidence)	TTC21B	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Joubert syndrome Glomerular disorder MONDO:0019722, TTC21B-related Tags
Green List (high evidence)	TTC25	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 35 (MIM#617092) Tags new gene name
Green List (high evidence)	TTC26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations Tags
Green List (high evidence)	TTC37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470 Tags
Green List (high evidence)	TTC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244 Central hypotonia Global developmental delay Intellectual disability Abnormality of nervous system morphology Microcephaly Abnormality of the face Behavioral abnormality Abnormality of the genitourinary system Tags
Green List (high evidence)	TTC7A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Very Early Onset Inflammatory Bowel Disease (VEOIBD) Tags
Green List (high evidence)	TTC8	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green List (high evidence)	TTI1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green List (high evidence)	TTI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 39, MIM#615541 Tags
Green List (high evidence)	TTLL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372 Tags
Green List (high evidence)	TTPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Ataxia with isolated vitamin E deficiency, MIM# 277460 Tags
Green List (high evidence)	TTR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, hereditary, transthyretin-related, MIM #105210 Carpal tunnel syndrome, familial, MIM# 115430 Tags treatable
Green List (high evidence)	TUBA1A	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, MIM# 611603 Congenital fibrosis of the extraocular muscles, AD Tags
Green List (high evidence)	TUBA4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital myopathy MONDO:0019952 Tags
Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771 Tags
Green List (high evidence)	TUBB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112 MONDO:0013141 Tags
Green List (high evidence)	TUBB2A	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 5 MIM#615763 Tags
Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 Tags
Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638 Tags
Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 4, torsion, autosomal dominant, OMIM #128101 Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Tags
Green List (high evidence)	TUBB4B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879 MONDO:0060650 Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related Tags
Green List (high evidence)	TUBB8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oocyte maturation defect 2, MIM# 616780 Tags
Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412 Tags
Green List (high evidence)	TUBGCP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737 Lissencephaly pachygyria subcortical band heterotopia microcephaly intellectual disability Tags
Green List (high evidence)	TUBGCP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335 Tags
Green List (high evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Tags
Green List (high evidence)	TUFM	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 4, OMIM #610678 MONDO:0012534 Tags
Green List (high evidence)	TULP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 14 M(MIM#600132) Leber congenital amaurosis 15, MIM# 613843 Tags
Green List (high evidence)	TULP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hepatorenocardiac degenerative fibrosis, MIM# 619902 Tags
Green List (high evidence)	TUSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615 TUSC3-CDG (Disorders of protein N-glycosylation) Tags SV/CNV
Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Sweeny-Cox syndrome, MIM# 617746 Robinow-Sorauf syndrome, MIM# 180750 Tags 5'UTR SV/CNV
Green List (high evidence)	TWIST2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ablepharon-macrostomia syndrome, MIM# 200110 Barber-Say syndrome, MIM# 209885 Focal facial dermal dysplasia 3, Setleis type, MIM# 227260 Tags
Green List (high evidence)	TWNK	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 Perrault syndrome 5 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 Tags
Green List (high evidence)	TXNDC15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Meckel syndrome 14, MIM# 619879 Tags
Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags 5'UTR SV/CNV
Green List (high evidence)	TYK2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 35, MIM# 611521 Tags
Green List (high evidence)	TYMP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy Tags
Green List (high evidence)	TYR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type IA, MIM# 203100 MONDO:0008745 Albinism, oculocutaneous, type IB, MIM# 606952 Tags
Green List (high evidence)	TYROBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770 Tags
Green List (high evidence)	TYRP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type III, MIM# 203290 MONDO:0008747 Tags
Green List (high evidence)	U2AF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Green List (high evidence)	UBA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Autoinflammatory disease, adult onset: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) #301054 Tags somatic
Green List (high evidence)	UBA2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes ACCES syndrome, MIM# 619959 Split-Hand/Foot Malformation Aplasia Cutis Congenita Ectrodactyly Tags
Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133 Epileptic encephalopathy, early infantile, 44 617132 Hypomyelinating neuropathy Tags
Green List (high evidence)	UBAP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Childhood-onset hereditary spastic paraplegia Spastic paraplegia 80, autosomal dominant 618418 Tags
Green List (high evidence)	UBAP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cone-rod dystrophy (MONDO:0015993), UBAP1L-related Tags
Green List (high evidence)	UBAP2L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494 Tags
Green List (high evidence)	UBE2A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860) Tags
Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group T, MIM# 616435 Tags SV/CNV
Green List (high evidence)	UBE3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Angelman syndrome, MIM#105830 Tags SV/CNV
Green List (high evidence)	UBE3B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green List (high evidence)	UBE3C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270 Tags
Green List (high evidence)	UBE4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639 Tags
Green List (high evidence)	UBIAD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, Schnyder type, MIM# 121800 Tags
Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Johanson-Blizzard syndrome (MIM#243800) Tags
Green List (high evidence)	UBR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, UBR5-related Tags
Green List (high evidence)	UBR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Li-Campeau syndrome, MIM# 619189 Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green List (high evidence)	UBTF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Neurodevelopmental disorder, MONDO:0700092, UBTF-related Tags
Green List (high evidence)	UCHL1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Spastic paraplegia 79A, autosomal dominant, MIM# 620221 Spastic paraplegia 79, autosomal recessive, 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green List (high evidence)	UFC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity and poor growth (MIM#618076) Tags deep intronic
Green List (high evidence)	UFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 14, MIM# 617899 Tags
Green List (high evidence)	UFSP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 106, MIM# 620028 Hip dysplasia, Beukes type, MIM#142669 Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 Tags
Green List (high evidence)	UGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green List (high evidence)	UGP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy intellectual disability microcephaly Tags
Green List (high evidence)	UGT1A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type I 218800 Crigler-Najjar syndrome, type II 606785 Tags
Green List (high evidence)	UMOD	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 Hyperuricemic nephropathy, familial juvenile 1 162000 Medullary cystic kidney disease 2 603860 Tags
Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Orotic aciduria, MIM# 258900 Tags
Green List (high evidence)	UNC13A	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myasthenia dyskinesia autism developmental delay neurodevelopmental disorder MONDO#0700092, UNC13A-related Tags
Green List (high evidence)	UNC13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Tags treatable
Green List (high evidence)	UNC45A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteootohepatoenteric syndrome, MIM# 619377 Cholestasis Diarrhoea Bone fragility Impaired hearing Tags
Green List (high evidence)	UNC45B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myofibrillar myopathy 11, MIM# 619178 Progressive Myopathy with Eccentric Cores Tags
Green List (high evidence)	UNC79	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), UNC79-related Tags
Green List (high evidence)	UNC80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Green List (high evidence)	UNC93B1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1, MIM#610551 Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related Tags
Green List (high evidence)	UNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency with hyper IgM, type 5, MIM#608106 Tags
Green List (high evidence)	UPB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Beta-ureidopropionase deficiency, MIM# 613161 Tags
Green List (high evidence)	UPF3B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 14, MIM# 300676 Tags
Green List (high evidence)	UQCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824 Tags
Green List (high evidence)	UQCRB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158 Tags
Green List (high evidence)	UQCRC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160 Tags
Green List (high evidence)	UQCRFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial Complex III deficiency lactic acidosis fetal bradycardia hypertrophic cardiomyopathy alopecia totalis Tags
Green List (high evidence)	UROD	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Porphyria cutanea tarda Porphyria, hepatoerythropoietic (MIM#176100) Tags
Green List (high evidence)	UROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Porphyria, congenital erythropoietic (MIM#263700) Tags
Green List (high evidence)	USB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Poikiloderma with neutropaenia, MIM# 604173 MONDO:0011405 Tags
Green List (high evidence)	USH1C	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1C, MIM# 276904 Deafness, autosomal recessive 18A, MIM# 602092 Tags
Green List (high evidence)	USH1G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1G, MIM# 606943 Tags
Green List (high evidence)	USH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 2A, MIM# 276901 Retinitis pigmentosa 39, MIM#613809 Tags
Green List (high evidence)	USP14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related Tags
Green List (high evidence)	USP18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 2 MIM#617397 Tags
Green List (high evidence)	USP25	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064 Tags
Green List (high evidence)	USP27X	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Intellectual disability, X-linked 105, MIM#300984 Tags
Green List (high evidence)	USP45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leber congenital amaurosis retinal dystrophy Tags
Green List (high evidence)	USP48	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 85, MIM# 620227 Tags
Green List (high evidence)	USP53	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 Tags
Green List (high evidence)	USP7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hao-Fountain syndrome, MIM# 616863 MONDO:0014805 Intellectual disability Autism Tags
Green List (high evidence)	USP8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pituitary adenoma 4, ACTH-secreting, somatic MIM#219090 hereditary spastic paraplegia Tags somatic
Green List (high evidence)	USP9X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green List (high evidence)	UVSSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes UV-sensitive syndrome 3 (MIM#614640) Tags
Green List (high evidence)	VAC14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Striatonigral degeneration, childhood-onset, MIM#617054 Tags
Green List (high evidence)	VAMP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323 Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Green List (high evidence)	VAMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Intellectual disability Autism Tags
Green List (high evidence)	VARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM #617802 Tags
Green List (high evidence)	VARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 20 OMIM #615917 Tags
Green List (high evidence)	VCAN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wagner syndrome 1, MIM# 143200 Tags
Green List (high evidence)	VCL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1W, MIM# 611407 Tags
Green List (high evidence)	VDR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rickets, vitamin D-resistant, type IIA, MIM# 277440 Tags
Green List (high evidence)	VEGFC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 4, MIM#615907 Tags
Green List (high evidence)	VGLL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Syngnathia, MONDO:0015409, VGLL2-related Tags
Green List (high evidence)	VIM	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cataract 30, pulverulent 116300 frontonasal dysostosis and premature aging Tags
Green List (high evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Tags
Green List (high evidence)	VKORC1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473 Warfarin resistance, MIM# 122700 Tags
Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050 Tags
Green List (high evidence)	VMA21	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, X-linked, with excessive autophagy, MIM# 310440 Tags deep intronic
Green List (high evidence)	VPS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 12, MIM# 616683 Tags founder
Green List (high evidence)	VPS13B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Cohen syndrome, MIM# 216550 Tags
Green List (high evidence)	VPS13C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Early-onset Parkinson disease-23, MIM# 616840 Tags
Green List (high evidence)	VPS13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green List (high evidence)	VPS16	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 30, MIM#619291 mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Tags
Green List (high evidence)	VPS33A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis-plus syndrome (MIM#617303) Tags
Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Tags
Green List (high evidence)	VPS35	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinson disease 17, MIM# 614203 Tags
Green List (high evidence)	VPS41	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green List (high evidence)	VPS45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags treatable
Green List (high evidence)	VPS4A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CIMDAG syndrome MIM# 619273 Tags
Green List (high evidence)	VPS50	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags
Green List (high evidence)	VPS53	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2E, OMIM #615851 Tags founder
Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 1A, MIM# 607596 Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Tags
Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia with coloboma 3, MIM# 610092 Microphthalmia, isolated 2, MIM# 610093 Tags
Green List (high evidence)	VWA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary motor neuropathy Tags
Green List (high evidence)	VWF	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes von Willebrand disease, type 1, MIM# 193400 von Willebrand disease, type 3 , MIM#277480 von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554 Tags
Green List (high evidence)	WAC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desanto-Shinawi syndrome, MIM# 616708 Tags
Green List (high evidence)	WARS	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, type IX (OMIM:617721) juvenile to adult onset (15-23 years) Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities, MIM# 620317 Tags
Green List (high evidence)	WARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Tags
Green List (high evidence)	WAS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wiskott-Aldrich syndrome, MIM# 301000 Thrombocytopaenia, X-linked, MIM# 313900 Neutropenia, severe congenital, X-linked , MIM#300299 Tags
Green List (high evidence)	WASF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Tags
Green List (high evidence)	WASHC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 43 MIM#615817 Tags
Green List (high evidence)	WASHC5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ritscher-Schinzel syndrome 1, MIM# 220210 Spastic paraplegia 8, autosomal dominant, MIM# 603563 Tags
Green List (high evidence)	WBP11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227 malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Tags
Green List (high evidence)	WBP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, WBP4-related Tags
Green List (high evidence)	WDFY3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 18, primary, autosomal dominant, MIM#617520 Neurodevelopmental disorder with macrocephaly Tags
Green List (high evidence)	WDPCP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green List (high evidence)	WDR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Neutropaenia Poor wound healing Severe stomatitis Neutrophil nuclei herniate Autoinflammatory periodic fever Thrombocytopaenia Tags
Green List (high evidence)	WDR11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 78, MIM# 620237 Hypogonadotropic hypogonadism 14 with or without anosmia MIM #614858 Tags
Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378 Tags
Green List (high evidence)	WDR26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Skraban-Deardorff syndrome, MIM#617616 Tags
Green List (high evidence)	WDR34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633 Retinitis pigmentosa Tags
Green List (high evidence)	WDR35	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 2, MIM#613610 MONDO:0013323 Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 MONDO:0013569 Tags
Green List (high evidence)	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurooculocardiogenitourinary syndrome, MIM# 618652 Tags
Green List (high evidence)	WDR4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 6, OMIM #618347 Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346 Tags
Green List (high evidence)	WDR44	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, WDR44-related Tags
Green List (high evidence)	WDR45	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 5 300894 Rett syndrome Rett-like phenotypes Tags
Green List (high evidence)	WDR45B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Tags
Green List (high evidence)	WDR47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Congenital heart disease MONDO:0005453 Tags
Green List (high evidence)	WDR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, WDR5-related Tags
Green List (high evidence)	WDR60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa Tags
Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 Tags
Green List (high evidence)	WDR72	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IIA3, MIM# 613211 Tags
Green List (high evidence)	WDR73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 1, MIM#251300 Tags
Green List (high evidence)	WDR81	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Hydrocephalus, congenital, 3, with brain anomalies, 617967 Tags
Green List (high evidence)	WDR83OS	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016 Tags
Green List (high evidence)	WEE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oocyte maturation defect 5, MIM# 617996 Tags
Green List (high evidence)	WFDC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bronchiectasis and nasal polyposis, MIM# 620984 Tags founder
Green List (high evidence)	WFS1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Cataract 41 Deafness, autosomal dominant 6/14/38 Wolfram syndrome, autosomal recessive 1 Wolfram-like syndrome, autosomal dominant {Diabetes mellitus, noninsulin-dependent, association with} Tags
Green List (high evidence)	WHRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 2D, MIM# 611383 Deafness, autosomal recessive 31, MIM# 607084 Tags
Green List (high evidence)	WIPF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wiskott-Aldrich syndrome 2 MIM# 614493 Reduced T cells defective lymphocyte responses to anti-CD3 high IgE Thrombocytopenia with or without small platelets recurrent bacterial and viral Infections eczema bloody diarrhoea gastrointestinal bleeding WAS protein absent Tags
Green List (high evidence)	WIPI2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 Tags
Green List (high evidence)	WISP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230 Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230 Tags new gene name
Green List (high evidence)	WLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zaki syndrome, MIM#619648 Tags
Green List (high evidence)	WNK1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300 MONDO:0024309 Pseudohypoaldosteronism, type IIC, MIM# 614492 Tags
Green List (high evidence)	WNK3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Prieto syndrome, MIM# 309610 Tags
Green List (high evidence)	WNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudohypoaldosteronism, type IIB, MIM# 614491 Tags
Green List (high evidence)	WNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XV, MIM# 615220 Tags
Green List (high evidence)	WNT10A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Odontoonychodermal dysplasia Schopf-Schulz-Passarge syndrome Tooth agenesis, selective, 4 Tags
Green List (high evidence)	WNT10B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Split-hand/foot malformation 6, OMIM #601906 Tooth agenesis, selective, 8, OMIM #617073 Tags
Green List (high evidence)	WNT11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes osteoporosis, MONDO:0005298 osteoarthritis, MONDO:0005178 recurrent fractures Tags
Green List (high evidence)	WNT2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 9, MIM# 618168 Tags
Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal dominant 1, MIM#180700 Tags
Green List (high evidence)	WNT7A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fuhrmann syndrome, MIM# 228930 Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 Santos syndrome, MIM# 613005 Tags
Green List (high evidence)	WNT7B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Tags
Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Tags
Green List (high evidence)	WRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Werner syndrome, MIM# 277700 MONDO:0010196 Tags
Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322 Developmental and epileptic encephalopathy 28, MIM# 616211 Tags
Green List (high evidence)	XDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xanthinuria, type I (MIM#278300) Tags
Green List (high evidence)	XIAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags treatable
Green List (high evidence)	XIST	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes X-inactivation, familial skewed, MIM# 300087 Tags
Green List (high evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group A , MIM#278700 MONDO:0010210 Tags
Green List (high evidence)	XPC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group C, MIM# 278720 MONDO:0010211 Tags
Green List (high evidence)	XPNPEP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159 Tags
Green List (high evidence)	XPR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 6, MIM# 616413 Tags
Green List (high evidence)	XRCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags
Green List (high evidence)	XRCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM# 616541 MONDO:0014686 Tags
Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags STR SV/CNV
Green List (high evidence)	XYLT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloocular syndrome MIM# 605822 Tags
Green List (high evidence)	YAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 Tags
Green List (high evidence)	YARS	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323 MONDO:0012012 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418 Tags
Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561 sideroblastic anaemia muscle atrophy myopathy lactic acidosis Hypertrophic cardiomyopathy Hepatomegaly Decreased cytochrome C oxidase activity Tags
Green List (high evidence)	YIF1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kaya-Barakat-Masson syndrome, MIM# 619125 Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Green List (high evidence)	YIPF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Tags
Green List (high evidence)	YRDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome Tags
Green List (high evidence)	YWHAE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags SV/CNV
Green List (high evidence)	YWHAG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 56, (MIMI#617665) Tags
Green List (high evidence)	YY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gabriele-de Vries syndrome, OMIM #617557 Tags
Green List (high evidence)	YY1AP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Grange syndrome, MIM# 602531 stenosis/occlusion of multiple arteries Tags
Green List (high evidence)	ZAP70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 48, MIM# 269840 Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006 Tags
Green List (high evidence)	ZBTB11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 69, OMIM #618383 Tags
Green List (high evidence)	ZBTB18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 22, MIM# 612337 Tags
Green List (high evidence)	ZBTB20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Primrose syndrome, MIM# 259050 Tags
Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069 MONDO:0013553 Tags
Green List (high evidence)	ZBTB47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Tags
Green List (high evidence)	ZBTB7A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Tags
Green List (high evidence)	ZC4H2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wieacker-Wolff syndrome, MIM# 314580 Tags
Green List (high evidence)	ZCCHC8	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Tags
Green List (high evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Raymond type MIM# 300799 Tags
Green List (high evidence)	ZEB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270 Corneal dystrophy, posterior polymorphous, 3, MIM# 609141 Tags
Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags SV/CNV
Green List (high evidence)	ZFHX3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related Tags
Green List (high evidence)	ZFHX4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, ZFHX4-related (MONDO:0700092) Tags SV/CNV
Green List (high evidence)	ZFP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes IUGR Diabetes mellitus, transient neonatal 1 OMIM:601410 Multi Locus Imprinting Disturbance diabetes mellitus, transient neonatal, 1, MONDO:0011073 Tags
Green List (high evidence)	ZFPM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diaphragmatic hernia 3, MIM# 610187 46XY sex reversal 9 (MIM#616067) Tetralogy of Fallot, MIM# 187500 Tags
Green List (high evidence)	ZFX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118 Tags
Green List (high evidence)	ZFYVE19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis Tags
Green List (high evidence)	ZFYVE26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 15, autosomal recessive MIM#270700 Tags
Green List (high evidence)	ZIC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Structural brain anomalies with impaired intellectual development and craniosynostosis, OMIM#618736 Tags
Green List (high evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 5, MIM# 609637 MONDO:0012322 Tags
Green List (high evidence)	ZIC3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955) Heterotaxy, visceral, 1, X-linked (MIM#306955) VACTERL association, X-linked, MIM# 314390 Tags
Green List (high evidence)	ZMIZ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies OMIM #618659 Tags
Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074 Restrictive dermopathy, lethal, MIM# 275210 MONDO:0010143 Tags
Green List (high evidence)	ZMYM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital anomalies of kidney and urinary tract Neurodevelopmental disorder Tags
Green List (high evidence)	ZMYM3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked 112, MIM# 301111 Tags
Green List (high evidence)	ZMYND10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 22, MIM#615444 Tags
Green List (high evidence)	ZMYND11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 30, MIM# 616083 Tags
Green List (high evidence)	ZMYND15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Severe oligozoospermia Tags
Green List (high evidence)	ZMYND8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related Delayed speech and language development Motor delay Intellectual disability Abnormality of cardiovascular system morphology Hearing abnormality Abnormality of vision Abnormality of the face Seizures Tags
Green List (high evidence)	ZNF142	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Tags
Green List (high evidence)	ZNF148	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies MIM#617260 Tags
Green List (high evidence)	ZNF292	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 64 MIM#619188 Tags
Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 10, primary, autosomal recessive (MIM#615095) Tags
Green List (high evidence)	ZNF341	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282 Mild facial dysmorphism Early onset eczema Recurrent bacterial skin infections, abscesses Recurrent respiratory infections, lung abscesses and pneumothoraces Hyperextensible joints, bone fractures, retention of primary teeth Tags
Green List (high evidence)	ZNF408	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 6, MIM# 616468 Retinitis pigmentosa 72, MIM# 616469 Tags
Green List (high evidence)	ZNF462	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Weiss-Kruszka syndrome, MIM#618619 Tags
Green List (high evidence)	ZNF469	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brittle cornea syndrome 1, MIM# 229200 Tags
Green List (high evidence)	ZNF526	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green List (high evidence)	ZNF644	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopia 21, autosomal dominant, MIM# 614167 Tags
Green List (high evidence)	ZNF687	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Paget disease of bone 6, MIM#616833 Tags founder
Green List (high evidence)	ZNF699	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEGCAGS syndrome, MIM# 619488 Tags
Green List (high evidence)	ZNF711	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 97 OMIM #300803 Tags
Green List (high evidence)	ZNF808	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pancreatic agenesis 3, MIM# 620991 Tags
Green List (high evidence)	ZNFX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 91 and hyperinflammation, MIM# 619644 Tags
Green List (high evidence)	ZNHIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PEHO syndrome, MIM# 260565 Tags founder
Green List (high evidence)	ZNRF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	ZP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oocyte maturation defect 1, MIM# 615774 Tags
Green List (high evidence)	ZP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oocyte maturation defect 6, MIM# 618353 Female infertility Tags
Green List (high evidence)	ZP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Oocyte maturation defect 3, MIM# 617712 Tags
Green List (high evidence)	ZRSR2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Orofaciodigital syndrome XXI, MIM# 301132 Tags
Green List (high evidence)	ZSCAN10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Otofacial neurodevelopmental syndrome, MIM# 620910 Tags
Green List (high evidence)	ZSWIM6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865 Acromelic frontonasal dysostosis, MIM# 603671 Tags
Amber List (moderate evidence)	AASS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hyperlysinemia, MIM# 238700 Tags disputed
Amber List (moderate evidence)	ABCC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Deafness-77, autosomal dominant (DFNA77), MIM#618915 Tags
Amber List (moderate evidence)	ABCD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 5 (MIM#616278) Tags
Amber List (moderate evidence)	ACACA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Acetyl-CoA carboxylase deficiency MIM#613933 Tags
Amber List (moderate evidence)	ACADS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 MONDO:0008722 Tags
Amber List (moderate evidence)	ACKR3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Oculomotor-abducens synkinesis, MIM# 619215 Tags
Amber List (moderate evidence)	ACSF3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Combined malonic and methylmalonic aciduria MIM#614265 Tags
Amber List (moderate evidence)	ADAMTS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related Tags
Amber List (moderate evidence)	ADCY10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypercalciuria, absorptive, susceptibility to MIM#143870 asthenozoospermia with absorptive hypercalciuria Tags
Amber List (moderate evidence)	ADCY3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Obesity, susceptibility to, BMIQ19} MIM#617885 Tags
Amber List (moderate evidence)	ADIPOR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa Tags
Amber List (moderate evidence)	AFP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Alpha-fetoprotein deficiency MIM#615969 [Hereditary persistence of alpha-fetoprotein] MIM#615970 Tags
Amber List (moderate evidence)	AGAP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy, MONDO:0006497, AGAP1-related Tags
Amber List (moderate evidence)	AGPAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Tags
Amber List (moderate evidence)	AHR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa 85 MIM#618345 Foveal hypoplasia 3, MIM# 620958 Tags
Amber List (moderate evidence)	AKAP6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, AKAP6-related Tags
Amber List (moderate evidence)	ALG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags founder
Amber List (moderate evidence)	ALPI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Inflammatory bowel disease, MONDO:0005265, ALPI-related Tags
Amber List (moderate evidence)	ANAPC7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699 Tags
Amber List (moderate evidence)	ANGPT1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Hereditary angioedema-5 (HAE5), MIM#619361 Tags
Amber List (moderate evidence)	ANKZF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related Tags
Amber List (moderate evidence)	ANLN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Focal segmental glomerulosclerosis 8, OMIM #616032 Tags
Amber List (moderate evidence)	ANO1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intestinal dysmotility syndrome, MIM# 620045 Moyamoya disease 7, MIM# 620687 Tags
Amber List (moderate evidence)	ANXA5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391 Tags
Amber List (moderate evidence)	AP1S3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Psoriasis 15, pustular, susceptibility to} 616106 Tags
Amber List (moderate evidence)	APOL1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551 Tags
Amber List (moderate evidence)	APOLD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bleeding disorder, vascular-type (MIM#620715) Tags
Amber List (moderate evidence)	APOO	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, APOO-related Developmental delay Lactic acidosis Muscle weakness Hypotonia Repetitive infections Cognitive impairment Autistic behaviour Tags
Amber List (moderate evidence)	AQP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Pulmonary arterial hypertension MONDO:0015924, AQP1-related Tags
Amber List (moderate evidence)	AQP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes [Blood group GIL] MIM#607457 Tags
Amber List (moderate evidence)	AQP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber List (moderate evidence)	ARAP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphoedema, MONDO:0019297, ARAP3-related Tags
Amber List (moderate evidence)	ARHGEF1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 62, MIM#618459 Tags
Amber List (moderate evidence)	ARHGEF10	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Slowed nerve conduction velocity, MIM# 608236 Tags
Amber List (moderate evidence)	ARHGEF38	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cleft lip/palate MONDO:0016044, ARHGEF38-related Tags
Amber List (moderate evidence)	ARHGEF40	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 Tags
Amber List (moderate evidence)	ARNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Webb-Dattani syndrome MONDO:0014404 Tags
Amber List (moderate evidence)	ARPC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease MONDO:0015626 Tags
Amber List (moderate evidence)	ART4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Macular degeneration, age-related, 8} MIM#613778 Tags
Amber List (moderate evidence)	ASCL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Tags
Amber List (moderate evidence)	ASTN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, ASTN2-related Tags
Amber List (moderate evidence)	ATAD2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, ATAD2B-related Tags
Amber List (moderate evidence)	ATG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive 25 MIM#617584 Tags
Amber List (moderate evidence)	ATOH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related Tags
Amber List (moderate evidence)	ATP2B3	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, X-linked 1, MIM#302500 Tags
Amber List (moderate evidence)	ATP2B4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related Tags
Amber List (moderate evidence)	ATP5A1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Tags new gene name
Amber List (moderate evidence)	ATP5B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inherited dystonia, MONDO:0044807, ATP5B-related Tags
Amber List (moderate evidence)	ATXN2L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ATXN2L-related Tags
Amber List (moderate evidence)	B3GNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related Tags
Amber List (moderate evidence)	BANF1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Nestor-Guillermo progeria syndrome, MIM# 614008 Neurodevelopmental disorder, MONDO:0700092, BANF1-related Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related Tags
Amber List (moderate evidence)	BBIP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 18, MIM#615995 Tags
Amber List (moderate evidence)	BCL9L	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Other Phenotypes Heterotaxy syndrome, MONDO:0018677, BCL9L-related Tags
Amber List (moderate evidence)	BCORL1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Shukla-Vernon syndrome, MIM#301029 Tags
Amber List (moderate evidence)	BET1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Tags
Amber List (moderate evidence)	BLK	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Common variable immunodeficiency, MONDO:0015517 Tags
Amber List (moderate evidence)	BLVRA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hyperbiliverdinaemia , MIM#614156 Tags
Amber List (moderate evidence)	BMP10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Pulmonary arterial hypertension Tags
Amber List (moderate evidence)	BMP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes coloboma, MONDO:0001476 microphthalmia, MONDO:0021129 Tags
Amber List (moderate evidence)	BNIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes spondyloepiphyseal dysplasia MONDO:0016761 Tags
Amber List (moderate evidence)	BPGM	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Erythrocytosis, familial, 8, MIM# 222800 Tags
Amber List (moderate evidence)	BUB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary microcephaly-30 (MCPH30), MIM#620183 Tags
Amber List (moderate evidence)	BUD13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lipodystrophy, MONDO:0006573 Tags
Amber List (moderate evidence)	C1orf194	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194-related Tags
Amber List (moderate evidence)	C2CD6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spermatogenic failure 68 , MIM# 619805 Tags
Amber List (moderate evidence)	C3orf52	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotrichosis-15, MIM#620177 Tags
Amber List (moderate evidence)	C4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes C4a deficiency MIM#614380 susceptibility systemic lupus erythematosus Tags SV/CNV
Amber List (moderate evidence)	C4B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes susceptibility to autoimmune disease C4B deficiency MIM#614379 Tags SV/CNV
Amber List (moderate evidence)	C7orf43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 25, primary, autosomal recessive, MIM# 618351 Tags
Amber List (moderate evidence)	C8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes C8 deficiency, type I MIM#613790 Tags
Amber List (moderate evidence)	CACNB4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682 {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682 Episodic ataxia, type 5, MIM#613855 Tags
Amber List (moderate evidence)	CAMK2G	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Mental retardation, autosomal dominant 59, MIM# 618522 Tags
Amber List (moderate evidence)	CAPNS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related Tags
Amber List (moderate evidence)	CARD8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Inflammatory bowel disease-30, MIM#619079 Tags
Amber List (moderate evidence)	CASP14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Ichthyosis, congenital, autosomal recessive 12 MIM#617320 Tags
Amber List (moderate evidence)	CASP8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags
Amber List (moderate evidence)	CATSPER2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes spermatogenic failure non-syndromic hearing loss Tags SV/CNV
Amber List (moderate evidence)	CCDC141	1 review	Unknown	Sources Expert Review Amber Literature Phenotypes Anosmic hypogonadotropic hypogonadism Tags
Amber List (moderate evidence)	CCDC174	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Tags
Amber List (moderate evidence)	CCDC28B	3 reviews 1 red	Other	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 Tags
Amber List (moderate evidence)	CCDC50	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 44 MIM#607453 Tags
Amber List (moderate evidence)	CCDC78	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Centronuclear myopathy 4, MIM#614807 Tags
Amber List (moderate evidence)	CCDC84	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mosaic variegated aneuploidy syndrome 4 (MIM#620153) Tags
Amber List (moderate evidence)	CCDC91	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Punctate palmoplantar keratoderma type III MONDO:0007047 Tags
Amber List (moderate evidence)	CCT5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840 Tags
Amber List (moderate evidence)	CD274	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 Tags
Amber List (moderate evidence)	CD28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 isolated susceptibility to cutaneous α- and γ-HPVs Tags
Amber List (moderate evidence)	CD320	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646 Disorders of cobalamin absorption, transport and metabolism Tags
Amber List (moderate evidence)	CD8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CD8 deficiency, familial, MIM# 608957 Tags
Amber List (moderate evidence)	CD96	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes C syndrome, MIM#211750 Tags
Amber List (moderate evidence)	CDK5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 Tags
Amber List (moderate evidence)	CDK6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly 12, primary, autosomal recessive, MIM#616080 Tags
Amber List (moderate evidence)	CEL	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Maturity-onset diabetes of the young, type VIII Tags
Amber List (moderate evidence)	CELA3B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Chronic pancreatitis, MONDO:0008185, CELA3B-related Tags
Amber List (moderate evidence)	CEP112	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spermatogenic failure 44, MIM#619044 Acephalic spermatozoa infertility Tags
Amber List (moderate evidence)	CEP162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa MONDO:0019200, CEP162-related Tags
Amber List (moderate evidence)	CEP19	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Morbid obesity and spermatogenic failure MIM#615703 Bardet-Biedl syndorme Tags
Amber List (moderate evidence)	CEP63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Seckel syndrome 6, MIM#614728 Tags
Amber List (moderate evidence)	CEP89	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Amber List (moderate evidence)	CETP	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hyperalphalipoproteinemia MIM#143470 Disorders of high density lipoprotein metabolism Tags
Amber List (moderate evidence)	CFAP206	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multiple morphological abnormalities of the flagella Tags
Amber List (moderate evidence)	CFAP74	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ciliary dyskinesia infertility Tags
Amber List (moderate evidence)	CHMP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Tags
Amber List (moderate evidence)	CHRM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental delay intellectual disability autism Tags
Amber List (moderate evidence)	CHST11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 Tags SV/CNV
Amber List (moderate evidence)	CIZ1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dystonia 23 MIM#614860 Tags
Amber List (moderate evidence)	CLCA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes heart conduction disease MONDO:0000992 Tags
Amber List (moderate evidence)	CLCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Retinitis pigmentosa 32, MIM# 609913 Tags
Amber List (moderate evidence)	CLCNKA	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 4b, digenic OMIM #613090 Tags
Amber List (moderate evidence)	CLIC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 103, MIM# 616042 Tags
Amber List (moderate evidence)	CLRN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Non-syndromic hearing loss Deafness, autosomal recessive 117, MIM# 619174 Tags
Amber List (moderate evidence)	CLTCL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital insensitivity to pain Tags
Amber List (moderate evidence)	CMPK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Tags
Amber List (moderate evidence)	CNKSR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related Tags
Amber List (moderate evidence)	CNP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 20, MIM# 619071 Tags
Amber List (moderate evidence)	COBLL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Cleft lip/palate MONDO:0016044, COBLL1-related Tags
Amber List (moderate evidence)	COG3	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber List (moderate evidence)	COL4A6	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 6 MIM#300914 Tags
Amber List (moderate evidence)	COPB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts Tags
Amber List (moderate evidence)	COPG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Immunodeficiency 128, MIM# 620983 Tags
Amber List (moderate evidence)	COX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 Tags
Amber List (moderate evidence)	COX16	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355 Hypertrophic cardiomyopathy encephalopathy severe fatal lactic acidosis Tags
Amber List (moderate evidence)	COX4I1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 Tags
Amber List (moderate evidence)	COX5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064 pulmonary arterial hypertension lactic acidemia failure to thrive isolated complex IV deficiency Tags
Amber List (moderate evidence)	CPEB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency, MONDO:0005387, CPEB1-related Tags SV/CNV
Amber List (moderate evidence)	CRAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration with brain iron accumulation 8, MIM# 617917 Leigh syndrome Tags
Amber List (moderate evidence)	CRBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 2 MIM#607417 Tags
Amber List (moderate evidence)	CREB3L3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Hypertriglyceridaemia-2, MIM#619324 Tags
Amber List (moderate evidence)	CSNK1D	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Advanced sleep-phase syndrome, familial, 2, MIM# 615224 Tags
Amber List (moderate evidence)	CSTF2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 113, MIM# 301116 Tags
Amber List (moderate evidence)	CTGF	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Kyphomelic dysplasia MONDO:0008881 Spondyloepimetaphyseal dysplasia MONDO:0100510 Tags
Amber List (moderate evidence)	CTH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Cystathioninuria MIM#219500 Tags
Amber List (moderate evidence)	CTNNA3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616 Tags
Amber List (moderate evidence)	CTNNBL1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846 Tags
Amber List (moderate evidence)	CTNND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, CTNND2-related Tags
Amber List (moderate evidence)	CTRC	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Pancreatitis, chronic, susceptibility to}, MIM#167800 Tags
Amber List (moderate evidence)	CYS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polycystic kidney disease, MONDO:0020642 Tags
Amber List (moderate evidence)	DACT1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Townes-Brocks syndrome 2 (OMIM #617466) Tags
Amber List (moderate evidence)	DALRD3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy Epileptic encephalopathy, early infantile, 86 618910 Tags
Amber List (moderate evidence)	DAND5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Heterotaxy, visceral, 13, autosomal, MIM# 621079 Tags
Amber List (moderate evidence)	DAZL	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian failure, MONDO:0005387, DAZL-related Tags
Amber List (moderate evidence)	DCAF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Tags
Amber List (moderate evidence)	DCAF8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Giant axonal neuropathy 2, autosomal dominant MIM#610100 Tags
Amber List (moderate evidence)	DCXR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes Pentosuria MIM#260800 Disorders of pentose metabolism Tags
Amber List (moderate evidence)	DDOST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ir, MIM# 614507 Tags
Amber List (moderate evidence)	DGAT2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related Tags
Amber List (moderate evidence)	DHX32	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DHX32-related Tags
Amber List (moderate evidence)	DHX38	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 84, MIM# 618220 Tags
Amber List (moderate evidence)	DIO1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thyroid hormone metabolism, abnormal, 2, MIM# 619855 Tags
Amber List (moderate evidence)	DLG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual disability (MONDO#0001071), DLG2-related Tags SV/CNV
Amber List (moderate evidence)	DMGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dimethylglycine dehydrogenase deficiency MIM#605850 Disorders and variants of other enzymes that oxidise xenobiotics Tags
Amber List (moderate evidence)	DMRT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 46,XY disorder of sex development, MONDO:0020040 Tags
Amber List (moderate evidence)	DNAH6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Heterotaxy, Azoospermia Tags
Amber List (moderate evidence)	DNAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 16, MIM# 614017 Tags founder
Amber List (moderate evidence)	DPH2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062 Diphthamide-deficiency syndrome Tags
Amber List (moderate evidence)	DPYSL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071, DPYSL2-related Tags
Amber List (moderate evidence)	DROSHA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Tags
Amber List (moderate evidence)	DSC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Hypotrichosis and recurrent skin vesicles MIM#613102 Tags
Amber List (moderate evidence)	DSTYK	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract 1, MIM# 610805 Spastic paraplegia 23, MIM# 270750 Tags SV/CNV
Amber List (moderate evidence)	DUOX1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes congenital hypothyroidism, No OMIM # Tags
Amber List (moderate evidence)	DUOXA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes congenital hypothyroidism, No OMIM # Tags
Amber List (moderate evidence)	DVL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Robinow syndrome MONDO:0019978 Tags
Amber List (moderate evidence)	DYRK1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Abdominal obesity-metabolic syndrome 3 - MIM#615812 Tags
Amber List (moderate evidence)	DZIP1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitral valve prolapse, MIM#610840 Spermatogenic failure 47, MIM# 619102 Tags
Amber List (moderate evidence)	EDN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Auriculocondylar syndrome 3, MIM# 615706 Tags
Amber List (moderate evidence)	EEF1D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, EEF1D-related Tags
Amber List (moderate evidence)	EFCAB7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polydactyly (MONDO:0021003), EFCAB7-related Tags
Amber List (moderate evidence)	EFNA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes craniosynostosis MONDO:0015469 Tags
Amber List (moderate evidence)	EHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, EHD1-related Tags
Amber List (moderate evidence)	EIF2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, epilepsy Tags
Amber List (moderate evidence)	EIF3I	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Amber List (moderate evidence)	EIF4ENIF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related Tags
Amber List (moderate evidence)	EMG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Bowen-Conradi syndrome, MIM#211180 Tags
Amber List (moderate evidence)	EMP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes nephrotic syndrome, type 10 MONDO:0014373 Tags
Amber List (moderate evidence)	EMX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Schizencephaly, MIM# 269160 Tags disputed
Amber List (moderate evidence)	EPHA7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder MONDO:0700092,EPHA7-related Tags SV/CNV
Amber List (moderate evidence)	EPHB2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 22, MIM# 618462 Tags
Amber List (moderate evidence)	ERAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 6, MIM# 617565 Tags
Amber List (moderate evidence)	ERBIN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Combined immunodeficiency, MONDO:0015131, ERBIN-related Recurrent respiratory infections Susceptibility to S.aureus Eczema Hyperextensible joints Scoliosis Arterial dilatation in some Tags
Amber List (moderate evidence)	ERGIC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags
Amber List (moderate evidence)	ESR2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes 46,XY disorder of sex development Ovarian dysgenesis 8, MIM# 618187 Tags
Amber List (moderate evidence)	ESRP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 109, MIM# 618013 Tags
Amber List (moderate evidence)	ESRP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cleft lip Tags
Amber List (moderate evidence)	EXOC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306 Global developmental delay Intellectual disability Abnormality of the face Abnormality of brain morphology Tags
Amber List (moderate evidence)	EXOSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Tags
Amber List (moderate evidence)	FAM20B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Desbuquois dysplasia MONDO:0015426 Tags
Amber List (moderate evidence)	FAM92A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Polydactyly, postaxial, type A9, MIM# 618219 Tags
Amber List (moderate evidence)	FBP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, childhood-onset, remitting, MIM# 619864 Tags
Amber List (moderate evidence)	FBXO38	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neuropathy, distal hereditary motor, type IID, 615575 dHMN/dSMA Tags
Amber List (moderate evidence)	FCGR3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency 20, MIM# 615707 Tags
Amber List (moderate evidence)	FCN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to ficolin 3 deficiency, MIM# 613860 Tags
Amber List (moderate evidence)	FEZF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030 Tags
Amber List (moderate evidence)	FGF20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Renal hypodysplasia/aplasia 2, MIM#615721 Tags
Amber List (moderate evidence)	FGL2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, FGL2-related Tags
Amber List (moderate evidence)	FHL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Cardiomyopathy, MONDO:0004994, FHL2-related Tags
Amber List (moderate evidence)	FIBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thauvin-Robinet-Faivre syndrome, MIM#617107 Tags
Amber List (moderate evidence)	FKBP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Amber List (moderate evidence)	FKBP8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes spina bifida HP:0002414 Tags
Amber List (moderate evidence)	FLT3LG	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 125, MIM# 620926 Tags
Amber List (moderate evidence)	FMN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hearing loss disorder MONDO:0005365 Tags SV/CNV
Amber List (moderate evidence)	FOXF2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes profound sensorineural hearing loss (SNHL) cochlea malformations incomplete partition type I anomaly of the cochlea Tags
Amber List (moderate evidence)	FOXH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital heart disease holoprosencephaly Tags
Amber List (moderate evidence)	FOXR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Postnatal microcephaly, progressive brain atrophy and global developmental delay Tags
Amber List (moderate evidence)	FRA12A STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Intellectual developmental disorder, autosomal dominant, FRA12A type MIM#136630 Tags 5'UTR
Amber List (moderate evidence)	FRMD4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Tags
Amber List (moderate evidence)	FRY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags
Amber List (moderate evidence)	FXYD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Renal hypomagnesemia 2 MONDO:0007937 Tags
Amber List (moderate evidence)	GAS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, autosomal recessive 125, MIM#620877 Tags
Amber List (moderate evidence)	GAS2L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 41 (MIM # 618449) Tags
Amber List (moderate evidence)	GATA5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital heart defects, multiple types, 5 - #617912 Tags
Amber List (moderate evidence)	GGN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spermatogenic failure 69, MIM# 619826 Tags
Amber List (moderate evidence)	GGT1	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Glutathioninuria 231950 Tags
Amber List (moderate evidence)	GHSR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Growth hormone deficiency, isolated partial, MIM# 615925 Tags
Amber List (moderate evidence)	GJA5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Atrial fibrillation, familial, 11, OMIM# 614049 Tags
Amber List (moderate evidence)	GNAI2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Pituitary adenoma, ACTH-secreting, somatic Ventricular tachycardia, idiopathic 192605 Syndromic developmental disorder Tags
Amber List (moderate evidence)	GNPNAT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Tags
Amber List (moderate evidence)	GPN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Perrault syndrome Tags
Amber List (moderate evidence)	GPRASP1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256 Tags
Amber List (moderate evidence)	GREM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Genetic intestinal polyposis MONDO:0018188 Tags SV/CNV
Amber List (moderate evidence)	GRK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 Tags
Amber List (moderate evidence)	GSR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660 Tags
Amber List (moderate evidence)	GSX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Tags
Amber List (moderate evidence)	GTF2E2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 6, nonphotosensitive, MIM# 616943 MONDO:0014841 Tags
Amber List (moderate evidence)	GUCA1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 48, MIM# 613827 Tags founder
Amber List (moderate evidence)	HAL	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Histidinemia MIM#235800 Disorders of histidine, tryptophan or lysine metabolism Tags
Amber List (moderate evidence)	HAND1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital heart disease, MONDO:0005453 Tags
Amber List (moderate evidence)	HAND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital heart disease, MONDO:0005453, HAND2-related Tags
Amber List (moderate evidence)	HBS1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinal disorder MONDO:0005283 Tags
Amber List (moderate evidence)	HCK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Tags
Amber List (moderate evidence)	HEATR5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures Tags
Amber List (moderate evidence)	HELQ	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber List (moderate evidence)	HIST1H4D	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092 Tags new gene name
Amber List (moderate evidence)	HIST1H4F	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related Tags new gene name
Amber List (moderate evidence)	HIST1H4J	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759 Tags new gene name
Amber List (moderate evidence)	HOXA11	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 Tags
Amber List (moderate evidence)	HOXD12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Clubfoot (non-syndromic) MONDO:0007342 Tags
Amber List (moderate evidence)	HSCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Anaemia, sideroblastic, 5, MIM# 619523 Tags
Amber List (moderate evidence)	HSD11B1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cortisone reductase deficiency 2, MIM# 614662 Tags
Amber List (moderate evidence)	HSPA1L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes inflammatory bowel disease, MONDO:0005265 Tags
Amber List (moderate evidence)	HYAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IX, MIM# 601492 MONDO:0011093 Tags
Amber List (moderate evidence)	ICE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, cerebral atrophy Tags
Amber List (moderate evidence)	ICOSLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency 119, MIM# 620825 Combined immunodeficiency recurrent bacterial and viral infections neutropaenia Tags
Amber List (moderate evidence)	IFNG	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mendelian susceptibility to mycobacterial disease Immunodeficiency 69, MIM#618963 Tags
Amber List (moderate evidence)	IGFBP7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224 Tags founder
Amber List (moderate evidence)	IGKC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576 Tags
Amber List (moderate evidence)	IGSF10	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes delayed puberty hypogonadotropic hypogonadism primary ovary insufficiency Tags
Amber List (moderate evidence)	IKBKE	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Tags
Amber List (moderate evidence)	IL17RD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Tags
Amber List (moderate evidence)	IL27RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Tags
Amber List (moderate evidence)	IL6R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Recurrent pyogenic infections, cold abscesses High circulating IL-6 levels High IgE IgE recurrent infection syndrome, MIM#618944 Tags
Amber List (moderate evidence)	IMPA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes intellectual disability, autosomal recessive 59 MONDO:0015020 Tags
Amber List (moderate evidence)	INO80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Primary immunodeficiency, MONDO:0003778 Tags
Amber List (moderate evidence)	INSL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cryptorchidism, MIM# 219050 Tags
Amber List (moderate evidence)	IQSEC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags
Amber List (moderate evidence)	IRF3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532 Tags
Amber List (moderate evidence)	IRF9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 65, susceptibility to viral infections 618648 Tags
Amber List (moderate evidence)	IRX6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes cone dystrophy, MONDO:0000455 Tags
Amber List (moderate evidence)	ISLR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hydrocephalus arthrogryposis abdominal distension Tags
Amber List (moderate evidence)	ITGAV	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease, MONDO:0002254, ITGAV-related Tags
Amber List (moderate evidence)	JAK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thrombocythaemia 3, MIM# 614521 Tags somatic
Amber List (moderate evidence)	JAKMIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Tags
Amber List (moderate evidence)	JPH2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, MIM#613873 Cardiomyopathy, dilated, 2E, MIM# 619492 Tags
Amber List (moderate evidence)	JPH3	4 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, JPH3-related Intellectual disability dystonia Tags
Amber List (moderate evidence)	KANK4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Nephrotic syndrome Tags
Amber List (moderate evidence)	KATNAL2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Oligo-astheno-teratozoospermia Autism Tags
Amber List (moderate evidence)	KCNA5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Atrial fibrillation, familial, 7, MIM# 612240 Tags
Amber List (moderate evidence)	KCNJ3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Epilepsy (MONDO#0005027), KCNJ3-related Tags
Amber List (moderate evidence)	KHK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Fructosuria MIM#229800 Disorders of fructose metabolism Tags
Amber List (moderate evidence)	KIAA1217	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Vertebral anomalies, syndromic and non-syndromic Tags
Amber List (moderate evidence)	KIF23	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Anaemia, congenital dyserythropoietic, type IIIA 105600 Tags
Amber List (moderate evidence)	KIF3B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hepatic fibrosis retinitis pigmentosa postaxial polydactyly Retinitis pigmentosa 89, MIM#618955 Tags
Amber List (moderate evidence)	KIRREL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephrotic syndrome, type 23, MIM# 619201 Tags
Amber List (moderate evidence)	KISS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Tags
Amber List (moderate evidence)	KL	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 Hyperphosphatemia Tags
Amber List (moderate evidence)	KLHL10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 11, MIM# 615081 Tags
Amber List (moderate evidence)	KLHL15	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Mental retardation, X-linked 103, MIM#300982 Tags
Amber List (moderate evidence)	KLHL9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal myopathy MONDO:0018949 Tags
Amber List (moderate evidence)	KLKB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Fletcher factor (prekallikrein) deficiency, MIM# 612423 Tags
Amber List (moderate evidence)	KNG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hereditary angioedema-6 (HAE6), MIM#619363 Tags
Amber List (moderate evidence)	KPNA7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Oocyte/zygote/embryo maturation arrest 17, MIM# 620319 Neurodevelopmental disorder (MONDO#0700092), KPNA7-related Tags
Amber List (moderate evidence)	KREMEN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Ectodermal dysplasia 13, hair/tooth type MIM#617392 Tags
Amber List (moderate evidence)	KRT71	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ?Hypotrichosis 13, 615896 Tags
Amber List (moderate evidence)	KRT74	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 7, hair/nail type MIM#614929 Hypotrichosis 3 , MIM# 613981 Woolly hair, autosomal dominant, MIM# 194300 Tags
Amber List (moderate evidence)	KRT83	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Erythrokeratodermia variabilis et progressiva 5, MIM# 617756 Monilethrix , MIM#158000 Tags
Amber List (moderate evidence)	LAMTOR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 Tags
Amber List (moderate evidence)	LBX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Central hypoventilation syndrome, congenital, 3, MIM#619483 Tags
Amber List (moderate evidence)	LCP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bone marrow failure syndrome, MONDO:0000159, LCP1-related Tags
Amber List (moderate evidence)	LEMD2	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Marbach-Rustad progeroid syndrome, OMIM# 619322 arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Cataract 46, juvenile-onset, OMIM# 212500 Tags
Amber List (moderate evidence)	LEO1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, LEO-1 related Tags
Amber List (moderate evidence)	LGR4	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Bone mineral density, low, susceptibility to} MIM#615311 Delayed puberty, self-limited MIM#619613 Syndromic disease, LGR4-related (MONDO#0002254) Tags
Amber List (moderate evidence)	LINGO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 64, MIM# 618103 Tags
Amber List (moderate evidence)	LMAN2L	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mental retardation, autosomal recessive, 52 OMIM #616887 Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 Tags
Amber List (moderate evidence)	LMOD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362 Tags
Amber List (moderate evidence)	LOXL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Stickler syndrome Tags
Amber List (moderate evidence)	LRIF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy Tags
Amber List (moderate evidence)	LRP1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Developmental dysplasia of the hip 3, MIM# 620690 Keratosis pilaris atrophicans MIM#604093 Tags
Amber List (moderate evidence)	LRRC23	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spermatogenic failure 92, MIM# 620848 Tags
Amber List (moderate evidence)	LRRC32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Tags
Amber List (moderate evidence)	LRRC45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, LRRC45-related Tags
Amber List (moderate evidence)	LRRC8C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes TIMES syndrome MIM#621056 Tags
Amber List (moderate evidence)	LSM7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes leukodystrophy MONDO:0019046, LRM7-related Tags
Amber List (moderate evidence)	LSR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes transient neonatal cholestasis intellectual disability short stature Tags
Amber List (moderate evidence)	LTV1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199 Tags
Amber List (moderate evidence)	LYRM4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 19, MIM# 615595 Tags
Amber List (moderate evidence)	MAL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 28, MIM# 620978 Tags
Amber List (moderate evidence)	MAMDC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber List (moderate evidence)	MAN2B2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related immunodeficiency Tags
Amber List (moderate evidence)	MANF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Tags
Amber List (moderate evidence)	MAPK8	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Chronic mucocutaneous candidiasis Connective tissue disorders Tags
Amber List (moderate evidence)	MASTL	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Tags
Amber List (moderate evidence)	MAT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thoracic aortic aneurysm Tags
Amber List (moderate evidence)	MC1R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200 Tags
Amber List (moderate evidence)	MCAT	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Optic atrophy 15, MIM# 620583 Tags
Amber List (moderate evidence)	MCM10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313 Susceptibility to CMV Restrictive cardiomyopathy Tags
Amber List (moderate evidence)	MCM4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency 54 MIM# 609981 Decreased NK cell number and function Viral infections (EBV, HSV, VZV) Short stature B cell lymphoma Adrenal failure Failure to thrive Microcephaly Increased chromosomal breakage Hyperpigmentation Lymphadenopathy Tags founder
Amber List (moderate evidence)	MCM7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Meier-Gorlin syndrome Microcephaly Intellectual disability Lipodystrophy Adrenal insufficiency Tags
Amber List (moderate evidence)	MDH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes epilepsy microcephaly intellectual disability Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959 Tags
Amber List (moderate evidence)	MDM4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes bone marrow failure syndrome MONDO:0000159, MDM4-related Tags
Amber List (moderate evidence)	MED22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Amber List (moderate evidence)	MEPE	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hereditary congenital facial paresis otosclerosis Tags
Amber List (moderate evidence)	MESP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Congenital heart disease MONDO:0005453 Tags
Amber List (moderate evidence)	MFAP5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic MIM# 616166 MONDO:0014514 Tags
Amber List (moderate evidence)	MGA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Syndromic disease, MONDO:0002254, MGA-related Premature ovarian failure 26, MIM# 621065 Tags
Amber List (moderate evidence)	MIA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Tags
Amber List (moderate evidence)	MIB1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Left ventricular noncompaction 7 MIM#615092 cardiomyopathy congenital heart disease Tags
Amber List (moderate evidence)	MICAL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Autosomal dominant epilepsy with auditory features (ADEAF) Tags
Amber List (moderate evidence)	MIR204	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Tags
Amber List (moderate evidence)	MIR96	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 50, MIM# 613074 Tags
Amber List (moderate evidence)	MKL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neutropaenia with combined immune deficiency Tags
Amber List (moderate evidence)	MKL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), MKL2-related Tags
Amber List (moderate evidence)	MMGT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, MMGT1-related Tags
Amber List (moderate evidence)	MMP15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cholestasis Congenital heart disease Tags
Amber List (moderate evidence)	MOCS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency MONDO:0020480 Tags
Amber List (moderate evidence)	MOV10L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spermatogenic failure 73, MIM#619878 Tags
Amber List (moderate evidence)	MPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Tags
Amber List (moderate evidence)	MPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myeloperoxidase deficiency, MIM# 254600 Tags
Amber List (moderate evidence)	MRAP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Susceptibility to obesity, MIM#615457 Tags
Amber List (moderate evidence)	MRPL50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO: 004470, MRPL50-related Tags
Amber List (moderate evidence)	MRPS14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 38, MIM# 618378 perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability Tags
Amber List (moderate evidence)	MRPS16	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomcis Health Alliance Leukodystrophy Flagship Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 2 OMIM #610498 Tags
Amber List (moderate evidence)	MRPS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 34, MIM# 617872 Tags
Amber List (moderate evidence)	MS4A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 5, MIM# 613495 Tags
Amber List (moderate evidence)	MTAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250 Tags
Amber List (moderate evidence)	MTMR14	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Tags
Amber List (moderate evidence)	MYL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414 Tags
Amber List (moderate evidence)	MYLK3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy Tags
Amber List (moderate evidence)	MYLPF	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Distal arthrogryposis type 1C (DA1C), MIM#619110 Tags
Amber List (moderate evidence)	MYO9A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital myasthenic syndrome 24, presynaptic, MIM# 618198 Tags
Amber List (moderate evidence)	MYO9B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related Tags
Amber List (moderate evidence)	NANOS3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber List (moderate evidence)	NAV2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental delay cerebellar hypoplasia cerebellar dysplasia Tags
Amber List (moderate evidence)	NCAPD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly 22, primary, autosomal recessive, MIM# 617984 Tags
Amber List (moderate evidence)	NCAPG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Khan-Khan-Katsanis syndrome, MIM# 618460 Tags
Amber List (moderate evidence)	NDNF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 Tags
Amber List (moderate evidence)	NDUFA11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Amber List (moderate evidence)	NDUFA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272 Developmental delay microcehaly seizures Tags
Amber List (moderate evidence)	NDUFB7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 Congenital lactic acidosis hypertrophic cardiomyopathy Tags
Amber List (moderate evidence)	NDUFB9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Tags
Amber List (moderate evidence)	NDUFC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170 Tags
Amber List (moderate evidence)	NEBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy dilated cardiomyopathy Tags
Amber List (moderate evidence)	NECAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 21, MIM#615833 Tags
Amber List (moderate evidence)	NEK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 67, MIM#615565 Tags
Amber List (moderate evidence)	NEK9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 10, MIM# 617022 Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262 Skeletal dysplasia Tags
Amber List (moderate evidence)	NFAT5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immune deficiency disease, MONDO:0003778, NFAT5-related Recurrent infections Autoimmune enterocolopathy EBV susceptibility HLH Tags
Amber List (moderate evidence)	NFATC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inborn error of immunity, MONDO:0003778, NFATC1-related Combined Immune deficiency Tags
Amber List (moderate evidence)	NFATC2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Skeletal system disorder MONDO:0005172 Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Tags
Amber List (moderate evidence)	NME5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ciliary dyskinesia Tags
Amber List (moderate evidence)	NMNAT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes polyneuropathy erythromelalgia Hydrops fetalis and multiple fetal anomalies Tags
Amber List (moderate evidence)	NODAL	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 5 (MIM#270100) Tags disputed
Amber List (moderate evidence)	NOP10	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 Tags
Amber List (moderate evidence)	NPPA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Atrial fibrillation, familial, 6, (MIM#612201) Tags
Amber List (moderate evidence)	NRG1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Hirschsprung disease, MONDO:0018309 Peripheral neuropathy MONDO:0005244 Tags
Amber List (moderate evidence)	NSF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 96, MIM# 619340 Seizures EEG with burst suppression Global developmental delay Intellectual disability Tags
Amber List (moderate evidence)	NSMCE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes SECKEL SYNDROME 10 Tags
Amber List (moderate evidence)	NSMCE3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Tags
Amber List (moderate evidence)	NSUN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 48, MIM# 619012 Tags
Amber List (moderate evidence)	NUAK2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Anencephaly 2, MIM# 619452 Tags
Amber List (moderate evidence)	NUDCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multiple congenital anomalies (MONDO:0019042), NUDCD2-related Tags
Amber List (moderate evidence)	NUP54	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dystonia 37, early-onset, with striatal lesions, MIM# 620427 Early onset dystonia progressive neurological deterioration ataxia dysarthria dysphagia hypotonia Tags
Amber List (moderate evidence)	NUP62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Striatonigral degeneration, infantile - MIM#271930 Tags founder
Amber List (moderate evidence)	NYNRIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Wilms tumour predisposition Tags
Amber List (moderate evidence)	OOEP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multi locus imprinting disturbance in offspring female infertility due to oocyte meiotic arrest MONDO:0044626 Tags
Amber List (moderate evidence)	OPLAH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes 5-oxoprolinase deficiency MIM#260005 Disorders of the gamma-glutamyl cycle Tags disputed
Amber List (moderate evidence)	OPN1LW	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Blue cone monochromacy - MIM#303700 Colourblindness, protan - MIM#303900 Tags SV/CNV
Amber List (moderate evidence)	OPN1MW	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Blue cone monochromacy - MIM#303700 Colourblindness, deutan - MIM#303800 Tags SV/CNV
Amber List (moderate evidence)	OTUD7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Tags
Amber List (moderate evidence)	OXA1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Encephalopathy hypotonia developmental delay Tags
Amber List (moderate evidence)	OXGR1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374 Tags
Amber List (moderate evidence)	P2RY8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Systemic lupus erythematosus, MONDO:0007915, P2RY8-related Tags
Amber List (moderate evidence)	PACSIN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, MONDO:0005336, PACSIN3-related Tags
Amber List (moderate evidence)	PANK4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cataract 49, MIM# 619593 Congenital posterior cataract Tags
Amber List (moderate evidence)	PCK2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes PEPCK deficiency, mitochondrial - MIM#261650 peripheral neuropathy (MONDO#0005244), PCK2-related Tags
Amber List (moderate evidence)	PCLO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Amber List (moderate evidence)	PDCD6IP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 29, primary, autosomal recessive, MIM# 620047 Microcephaly intellectual disability Tags
Amber List (moderate evidence)	PDCL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Megacystis-microcolon Tags
Amber List (moderate evidence)	PDE6G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 57 - MIM#613582 Tags
Amber List (moderate evidence)	PDIA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Tags
Amber List (moderate evidence)	PGRMC1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Premature ovarian failure Isolated paediatric cataract Tags SV/CNV
Amber List (moderate evidence)	PHC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly 11, primary, autosomal recessive, MIM#615414 Tags
Amber List (moderate evidence)	PHLDB1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Osteogenesis imperfecta, type XXIII, MIM# 620639 Tags
Amber List (moderate evidence)	PIGM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol deficiency, MIM# 610293 portal vein thrombosis persistent absence seizures macrocephaly infantile-onset cerebrovascular thrombotic events Tags founder
Amber List (moderate evidence)	PIGY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 Tags
Amber List (moderate evidence)	PIK3C2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes familial partial epilepsy - MONDO#0017704 Tags
Amber List (moderate evidence)	PJA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual disability trigonocephaly Tags
Amber List (moderate evidence)	PLCG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Tags
Amber List (moderate evidence)	PLCH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Holoprosencephaly 14, MIM# 619895 Tags
Amber List (moderate evidence)	PLD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 46 MIM#617770 Tags
Amber List (moderate evidence)	PLEKHA5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes cleft lip cleft palate Tags
Amber List (moderate evidence)	PLEKHA7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cleft lip and palate Tags
Amber List (moderate evidence)	PLEKHG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763 Tags
Amber List (moderate evidence)	PLEKHM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy MONDO:0005021 Tags
Amber List (moderate evidence)	PLIN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lipodystrophy, familial partial, type 4, MIM# 613877 Tags disputed
Amber List (moderate evidence)	PLXNA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Abnormality of the face Failure to thrive Abnormal heart morphology Tags
Amber List (moderate evidence)	PMEPA1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related Tags
Amber List (moderate evidence)	PMP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1G MIM#618279 Tags
Amber List (moderate evidence)	PNLIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pancreatic lipase deficiency MIM#614338 disorders of lipid and lipoprotein metabolism Tags
Amber List (moderate evidence)	POF1B	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Premature ovarian failure 2B, MIM# 300604 Tags
Amber List (moderate evidence)	POLD2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145 Tags
Amber List (moderate evidence)	POLR2C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber List (moderate evidence)	POLR3C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Severe VZV infection Tags
Amber List (moderate evidence)	POLR3GL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234 endosteal hyperostosis oligodontia growth retardation facial dysmorphisms lipodystrophy Tags
Amber List (moderate evidence)	POLR3H	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber List (moderate evidence)	POU2AF1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Agammaglobulinaemia, MONDO:0015977, POU2AF1-related Tags
Amber List (moderate evidence)	PPIP5K2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 100, MIM# 618422 Tags
Amber List (moderate evidence)	PPM1K	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, mild variant, MIM#615135 Tags
Amber List (moderate evidence)	PPP1R15B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Tags
Amber List (moderate evidence)	PPP2R2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Tags STR
Amber List (moderate evidence)	PPP5C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PPP5C-related Tags
Amber List (moderate evidence)	PRDM15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Steroid resistant nephrotic syndrome Holoprosencephaly Tags
Amber List (moderate evidence)	PRICKLE2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Tags
Amber List (moderate evidence)	PRKAG3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes increased glycogen content in skeletal muscle Tags
Amber List (moderate evidence)	PRPF6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 60, MIM# 613983 Tags
Amber List (moderate evidence)	PRPH	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Tags
Amber List (moderate evidence)	PRSS12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Intellectual disability, PRSS12 related MIM#249500 Tags
Amber List (moderate evidence)	PRSS8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ichthyosis MONDO:0019269, PRSS8-related Tags
Amber List (moderate evidence)	PSMA3	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 Tags
Amber List (moderate evidence)	PSMB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability microcephaly Tags
Amber List (moderate evidence)	PSMB4	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Tags
Amber List (moderate evidence)	PTGS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Platelet dysfunction bleeding Tags
Amber List (moderate evidence)	PTPA	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO: 36073231, PTPA-related Tags
Amber List (moderate evidence)	PTPN13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes bone marrow failure syndrome MONDO#0000159, PTPN13-related Tags
Amber List (moderate evidence)	PTPN2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lupus arthritis common variable immunodeficiency Tags
Amber List (moderate evidence)	PTPRJ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Thrombocytopenia 10, MIM# 620484 Tags
Amber List (moderate evidence)	RAB14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber List (moderate evidence)	RAB1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, RAB1A-related Tags
Amber List (moderate evidence)	RAB32	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 Tags
Amber List (moderate evidence)	RAMP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary open angle glaucoma Tags
Amber List (moderate evidence)	RAP1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Kabuki syndrome Tags
Amber List (moderate evidence)	RARA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Craniosynostosis - MONDO:0015469 Syndromic chorioretinal coloboma Tags
Amber List (moderate evidence)	RASA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Tags
Amber List (moderate evidence)	RBFOX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related Tags
Amber List (moderate evidence)	RBM28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Alopecia, neurologic defects, and endocrinopathy syndrome (MIM#612079) Tags
Amber List (moderate evidence)	RBM7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes SMA-like spinal motor neuropathy dHMN/dSMA Tags
Amber List (moderate evidence)	RBMX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Tags
Amber List (moderate evidence)	RC3H1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Relapsing HLH Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998 Tags
Amber List (moderate evidence)	RCAN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes FSGS proteinuria Tags
Amber List (moderate evidence)	RDH11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Tags
Amber List (moderate evidence)	REC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber List (moderate evidence)	RECQL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Photosensitivity facial dysmorphism xeropthalmia skeletal abnormalities Tags
Amber List (moderate evidence)	REL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 92, MIM# 619652 Combined immunodeficiency T cells: normal, decreased memory CD4, poor proliferation B cells: low, mostly naive, few switched memory B cells, impaired proliferation Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms Defective innate immunity Tags
Amber List (moderate evidence)	REPS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Cerebral palsy HP:0100021 Tags
Amber List (moderate evidence)	REXO2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related Tags
Amber List (moderate evidence)	RFWD3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group W, MIM# 617784 Tags
Amber List (moderate evidence)	RHBDF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy Tags
Amber List (moderate evidence)	RHOB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Cerebral Palsy Tags
Amber List (moderate evidence)	RHOG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Genetic HLH, MONDO:0015541, RHOG-related Tags
Amber List (moderate evidence)	RHOH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Tags
Amber List (moderate evidence)	RHOXF1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Spermatogenic failure, MONDO:0004983, RHOXF1-related Tags
Amber List (moderate evidence)	RIPK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related Recurrent HSV encephalitis Tags
Amber List (moderate evidence)	RIPOR2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 104, MIM# 616515 Deafness, autosomal dominant 21, MIM# 607017 Tags founder
Amber List (moderate evidence)	RMI2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bloom-like syndrome Tags
Amber List (moderate evidence)	RNASEL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Tags
Amber List (moderate evidence)	RNF2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Lou-Schoch-Yamamoto syndrome , MIM#619460 epilepsy intellectual disability intrauterine growth retardation Tags
Amber List (moderate evidence)	RNF212B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Infertility disorder, MONDO:0005047 Tags
Amber List (moderate evidence)	RNF31	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Amber List (moderate evidence)	ROBO4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Aortic valve disease 8, MIM#618496 bicuspid aortic valve ascending aortic aneurysm ascending aorta dilatation Tags
Amber List (moderate evidence)	ROCK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes congenital heart disease MONDO:0005453 Tags
Amber List (moderate evidence)	ROR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 108, MIM# 617654 Tags
Amber List (moderate evidence)	RPL10L	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MONDO_0004983, oligo-/azoospermia Tags
Amber List (moderate evidence)	RPL18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Diamond-Blackfan anemia 18, MIM# 618310 Tags
Amber List (moderate evidence)	RPL31	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anaemia Tags
Amber List (moderate evidence)	RPL8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond-Blackfan anemia MONDO:0015253 Tags
Amber List (moderate evidence)	RPL9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Diamond Blackfan anaemia Tags
Amber List (moderate evidence)	RPS20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond Blackfan anaemia Tags
Amber List (moderate evidence)	RPS23	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 Tags
Amber List (moderate evidence)	RPS28	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags
Amber List (moderate evidence)	RPS29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 13, MIM# 615909 Tags
Amber List (moderate evidence)	RPS6KB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related Tags
Amber List (moderate evidence)	RRAS	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Noonan syndrome, MONDO:0018997 Tags
Amber List (moderate evidence)	RREB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Rasopathy, MONDO:0021060, RREB1-related Tags SV/CNV
Amber List (moderate evidence)	RRM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 Tags
Amber List (moderate evidence)	RRP7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 28, primary, autosomal recessive MIM#619453 Tags
Amber List (moderate evidence)	RSPRY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Tags
Amber List (moderate evidence)	RUSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Amber List (moderate evidence)	RYR3	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital myopathy 20, MIM# 620310 developmental and epileptic encephalopathy (MONDO:0100062) Tags
Amber List (moderate evidence)	SARDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Sarcosinemia MIM#268900 Disorders of serine, glycine or glycerate metabolism Tags
Amber List (moderate evidence)	SCARB1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes High density lipoprotein cholesterol level QTL6 MIM#610762 Scavenger receptor class B type I deficiency Inherited hypolipidaemias Tags
Amber List (moderate evidence)	SCGN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ulcerative colitis, MONDO:0005101 Tags
Amber List (moderate evidence)	SCP2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 Tags
Amber List (moderate evidence)	SCYL2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita (AMC) Zain syndrome Tags
Amber List (moderate evidence)	SEC16B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Tags
Amber List (moderate evidence)	SEC23A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Craniolenticulosutural dysplasia (MIM# 607812) Tags
Amber List (moderate evidence)	SEC31A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651 congenital neurodevelopmental syndrome spastic paraplegia multiple contractures profound developmental delay epilepsy failure to thrive Tags
Amber List (moderate evidence)	SEC61B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Polycystic liver disease with or without renal cysts Tags
Amber List (moderate evidence)	SELENOI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals microcephaly Tags
Amber List (moderate evidence)	SEMA3E	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, MIM#214800 Tags
Amber List (moderate evidence)	SEMA4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 10, 610283 Retinitis pigmentosa 35, 610282 Tags
Amber List (moderate evidence)	SEMA5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability autism Tags
Amber List (moderate evidence)	SEMA7A	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Decreased bone mineral density Kallmann syndrome Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 Tags
Amber List (moderate evidence)	SGMS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Amber List (moderate evidence)	SGO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Chronic atrial and intestinal dysrhythmia, MIM# 616201 Tags
Amber List (moderate evidence)	SH3KBP1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 61, MIM# 300310 Tags SV/CNV
Amber List (moderate evidence)	SHPK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Sedoheptulokinase deficiency MIM#617213 Tags
Amber List (moderate evidence)	SHROOM3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Anencephaly cleft lip and palate Tags
Amber List (moderate evidence)	SIK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Spondyloepimetaphyseal dysplasia, Krakow type - #618162 Tags
Amber List (moderate evidence)	SIPA1L3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Cataract 45 MIM#616851 Tags
Amber List (moderate evidence)	SIX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Branchiootorenal syndrome 2, MIM# 610896 Tags disputed
Amber List (moderate evidence)	SLC13A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes sulfation-related bone disorder MONDO:0019688, SLC13A1-related Tags
Amber List (moderate evidence)	SLC19A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Megaloblastic anemia, folate-responsive, MIM# 601775 Combined immunodeficiency, SLC19A1-related MONDO:0015131 Tags
Amber List (moderate evidence)	SLC1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dicarboxylic aminoaciduria, MIM# 222730 Tags
Amber List (moderate evidence)	SLC25A10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Intractable epileptic encephalopathy Mitochondrial DNA depletion syndrome 19, MIM# 618972 Tags
Amber List (moderate evidence)	SLC25A21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome-18, MIM#618811 Tags
Amber List (moderate evidence)	SLC26A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 61, MIM# 613865 Tags
Amber List (moderate evidence)	SLC30A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Perinatal lethal cardiomyopathy Tags
Amber List (moderate evidence)	SLC30A7	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Joubert syndrome (MONDO:0018772), SLC30A7-related Tags
Amber List (moderate evidence)	SLC31A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Amber List (moderate evidence)	SLC35B2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 Tags
Amber List (moderate evidence)	SLC35F1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated Rett-like syndrome Tags
Amber List (moderate evidence)	SLC36A2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Hyperglycinuria MIM#138500 Iminoglycinuria, digenic MIM#242600 Disorders of amino acid transport Tags
Amber List (moderate evidence)	SLC39A5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myopia 24, autosomal dominant, MIM# 615946 Tags
Amber List (moderate evidence)	SLC4A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Osteopetrosis, autosomal recessive 9, MIM# 620366 Tags
Amber List (moderate evidence)	SLC4A7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, SLC4A7-related Tags
Amber List (moderate evidence)	SLC52A1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Riboflavin deficiency, 615026 Tags
Amber List (moderate evidence)	SLC6A17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 48, MIM# 616269 Tags
Amber List (moderate evidence)	SLC6A6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350 Early retinal degeneration cardiomyopathy Tags
Amber List (moderate evidence)	SLC9A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lichtenstein-Knorr syndrome, MIM# 616291 Tags
Amber List (moderate evidence)	SLC9A7	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 108 OMIM #301024 Tags
Amber List (moderate evidence)	SLIT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Amber List (moderate evidence)	SLIT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital diaphragmatic hernia Tags
Amber List (moderate evidence)	SMN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Spinal muscular atrophy, type III, modifier of} 253400 Tags
Amber List (moderate evidence)	SNAI2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 2D, MIM# 608890 Piebaldism, MIM# 172800 Tags
Amber List (moderate evidence)	SNIP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 Tags founder
Amber List (moderate evidence)	SOX3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 XX male sex reversal Tags SV/CNV
Amber List (moderate evidence)	SPATA13	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes primary angle-closure glaucoma MONDO:0001868 Tags
Amber List (moderate evidence)	SPATA16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 6 MIM#102530 Spermatogenic failure 6 MONDO:0007060 Tags
Amber List (moderate evidence)	SPATA22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Spermatogenic failure 96, MIM#621001 Premature ovarian failure 25, MIM#621002 Tags
Amber List (moderate evidence)	SPATC1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness Tags
Amber List (moderate evidence)	SPIDR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ovarian dysgenesis 9, MIM# 619665 Tags
Amber List (moderate evidence)	SPIN4	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Lui-Jee-Baron syndrome MIM#301114 Tags
Amber List (moderate evidence)	SPNS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 115, MIM# 618457 Tags
Amber List (moderate evidence)	SPPL2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 86, MIM#619549 Susceptibility to mycobacteria and Salmonella Tags
Amber List (moderate evidence)	SPRY1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Craniosynostosis, SPRY1-related, MONDO:0015469 Tags
Amber List (moderate evidence)	SPRY4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266 Tags disputed
Amber List (moderate evidence)	SPTSSA	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 90B, autosomal recessive , MIM# 620417 Spastic paraplegia 90A, autosomal dominant, MIM# 620416 Tags
Amber List (moderate evidence)	SQOR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leigh-like disorder Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Tags
Amber List (moderate evidence)	SREBF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurocutaneous syndrome, MONDO:0042983, SREBF2-related Tags
Amber List (moderate evidence)	SRGAP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Amber List (moderate evidence)	SRP19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neutropenia, MONDO:0001475, SRP19-related Tags
Amber List (moderate evidence)	SRP68	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534 Tags
Amber List (moderate evidence)	SRP72	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bone marrow failure syndrome 1, MIM# 614675 Tags disputed
Amber List (moderate evidence)	SRPRA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Tags
Amber List (moderate evidence)	SSR3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation Tags
Amber List (moderate evidence)	STX4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 123, MIM# 620745 Tags
Amber List (moderate evidence)	STX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital disorder of glycosylation MONDO#0015286, STX5-related Tags
Amber List (moderate evidence)	SUCO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Osteogenesis imperfecta Tags
Amber List (moderate evidence)	SUGCT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Glutaric aciduria III MIM#231690 Organic acidurias Tags
Amber List (moderate evidence)	SV2A	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SV2A-related Developmental and epileptic encephalopathy 113, MIM# 620772 Tags
Amber List (moderate evidence)	SVIL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy, MIM#619040 Tags
Amber List (moderate evidence)	SYCP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 4, MIM# 270960 Pregnancy loss, recurrent, 4, MIM# 270960 Tags
Amber List (moderate evidence)	TAF13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 60, MIM# 617432 Tags
Amber List (moderate evidence)	TAF1C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Tags
Amber List (moderate evidence)	TAPBP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type I, MIM# 604571 MHC class I deficiency 3, MIM# 620814 Tags
Amber List (moderate evidence)	TAPT1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Tags
Amber List (moderate evidence)	TARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Trichothiodystrophy 7, nonphotosensitive OMIM #618546 Tags
Amber List (moderate evidence)	TBX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223 Tags
Amber List (moderate evidence)	TBX21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency 88, MIM# 619630 Asthma and nasal polyps, MIM# 208550 Tags
Amber List (moderate evidence)	TBXA2R	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009 Tags
Amber List (moderate evidence)	TCN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes transcobalamin I deficiency MONDO:0008659 Tags
Amber List (moderate evidence)	TDP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber List (moderate evidence)	TEAD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Sveinsson chorioretinal atrophy, MIM# 108985 Tags
Amber List (moderate evidence)	TEP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy, MONDO:0006497, TEP1-related Tags
Amber List (moderate evidence)	TERB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spermatogenic failure 59, MIM# 619645 Tags
Amber List (moderate evidence)	TFRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency 46, MIM# 616740 T cells: normal number, poor proliferation B cells: normal number, low memory B cells recurrent infections, neutorpaenia thrombocytopaenia Tags
Amber List (moderate evidence)	TGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Uncombable hair syndrome 2 MIM#617251 Tags
Amber List (moderate evidence)	THBS2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic type, 3, MIM# 620865 Tags
Amber List (moderate evidence)	THOC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Nonsyndromic hearing loss Tags
Amber List (moderate evidence)	TIA1	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133 Welander distal myopathy (MIM#604454) Tags
Amber List (moderate evidence)	TIMM22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes mitochondrial myopathy hypotonia gastroesophageal reflux disease Tags
Amber List (moderate evidence)	TKFC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Inborn error of immunity, MONDO:0003778, TKFC-related Tags
Amber List (moderate evidence)	TKT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Short stature, developmental delay, and congenital heart defects OMIM #617044 Tags
Amber List (moderate evidence)	TLN1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes idiopathic spontaneous coronary artery dissection MONDO:0007385 thrombocytopenia, MONDO:0002049, TLN1-related Tags
Amber List (moderate evidence)	TMEM132E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 99, MIM# 618481 Tags
Amber List (moderate evidence)	TMEM251	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dysostosis multiplex, Ain-Naz type 619345 Tags
Amber List (moderate evidence)	TMEM65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial encephalomyopathy Tags
Amber List (moderate evidence)	TMTC2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 122, MIM# 620714 Tags
Amber List (moderate evidence)	TNC	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 56, MIM# 615629 Tags
Amber List (moderate evidence)	TNFRSF13C	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 4, MIM# 613494 Tags
Amber List (moderate evidence)	TNIK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 54, MIM# 617028 Tags
Amber List (moderate evidence)	TNK2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes late onset infantile epilepsy Mayer-Rokitansky-Küster-Hauser syndrome Tags
Amber List (moderate evidence)	TNNI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Arthrogryposis MONDO:0008779, TNNI1-related Tags
Amber List (moderate evidence)	TOMM7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Garg-Mishra progeroid syndrome, MIM# 620601 Tags
Amber List (moderate evidence)	TOMM70	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Severe anaemia, lactic acidosis, developmental delay White matter abnormalities, developmental delay, regression, movement disorder Tags
Amber List (moderate evidence)	TRAC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Tags founder technically challenging
Amber List (moderate evidence)	TRAF3IP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 8, MIM# 615527 Tags
Amber List (moderate evidence)	TRAPPC2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Amber List (moderate evidence)	TRPA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Episodic pain syndrome, familial, 1, MIM# 615040 Tags
Amber List (moderate evidence)	TRPC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 41 MIM#616410 Tags
Amber List (moderate evidence)	TRPC5	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, TRPC5-related Tags
Amber List (moderate evidence)	TRPM4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Progressive familial heart block, type IB, MIM# 604559 Erythrokeratodermia variabilis et progressiva 6, MIM# 618531 Tags
Amber List (moderate evidence)	TRPV1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Susceptibility to malignant hyperthermia Tags
Amber List (moderate evidence)	TRU-TCA1-1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related Tags
Amber List (moderate evidence)	TSHZ3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes congenital anomaly of kidney and urinary tract MONDO:0019719 Tags
Amber List (moderate evidence)	TSPAN7	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 Tags
Amber List (moderate evidence)	TTF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes congenital hypothyroidism, thyroid dysgenesis, No OMIM # Tags
Amber List (moderate evidence)	TTL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorderMONDO:0100038 Tags
Amber List (moderate evidence)	TUB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinal dystrophy and obesity, MIM# 616188 Tags
Amber List (moderate evidence)	TUBA8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840 Tags
Amber List (moderate evidence)	TUFT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Woolly hair-skin fragility syndrome, MIM# 620415 Tags
Amber List (moderate evidence)	TXN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 29, MIM# 616811 Tags
Amber List (moderate evidence)	TXNRD2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Glucocorticoid deficiency 5 (GCCD5), MIM#617825 MONDO:0040502 Tags
Amber List (moderate evidence)	TYMS	2 reviews 1 red	Other	Sources Expert Review Amber Literature Phenotypes Dyskeratosis congenita, digenic, MIM#620040 Tags digenic
Amber List (moderate evidence)	UBR4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Episodic ataxia progressive neurological deterioration Tags
Amber List (moderate evidence)	UCP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Obesity, susceptibility to, BMIQ4} 607447 Hyperinsulinism Tags
Amber List (moderate evidence)	UNC119	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 24, MIM# 620342 Immunodeficiency 13 MIM#615518 Tags
Amber List (moderate evidence)	UNC50	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita Tags
Amber List (moderate evidence)	UPF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber List (moderate evidence)	UQCC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Tags
Amber List (moderate evidence)	UQCRH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Tags
Amber List (moderate evidence)	UQCRQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Tags
Amber List (moderate evidence)	UROC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Urocanase deficiency, MIM#276880 Tags
Amber List (moderate evidence)	USMG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Tags
Amber List (moderate evidence)	USP9Y	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spermatogenic failure, Y-linked, 2, MIM#415000 Tags SV/CNV
Amber List (moderate evidence)	VPS37A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 53, autosomal recessive, MIM# 614898 Tags
Amber List (moderate evidence)	VPS51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Amber List (moderate evidence)	VPS52	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100465 Tags
Amber List (moderate evidence)	VSX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Keratoconus 1, MIM# 148300 Tags
Amber List (moderate evidence)	VWA8	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa 97, MIM#620422 Tags
Amber List (moderate evidence)	WBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 107, MIM# 617639 Tags
Amber List (moderate evidence)	WDR91	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hydrocephalus cerebellar hypoplasia hygroma Tags
Amber List (moderate evidence)	WNT4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mullerian aplasia and hyperandrogenism (MIM#158330) SERKAL syndrome, OMIM #611812 Tags
Amber List (moderate evidence)	WNT9B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Renal agenesis/hypoplasia/dysplasia Tags
Amber List (moderate evidence)	WRAP73	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microsperophakia Tags
Amber List (moderate evidence)	XRCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group U, MIM# 617247 Tags
Amber List (moderate evidence)	YKT6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease, MONDO:0002254, YKT6-related Tags
Amber List (moderate evidence)	YME1L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Optic atrophy 11, MIM#617302 Tags
Amber List (moderate evidence)	ZBTB16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447 Tags
Amber List (moderate evidence)	ZBTB42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Lethal congenital contracture syndrome 6, MIM# 616248 Tags
Amber List (moderate evidence)	ZC3H14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 56 OMIM# 617125 Tags
Amber List (moderate evidence)	ZDHHC16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Tags
Amber List (moderate evidence)	ZNF143	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined methylmalonic acidemia and homocystinuria, cblX like 1, MONDO:0002012, ZNF143-related Tags
Amber List (moderate evidence)	ZNF407	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes SIMHA syndrome, MIM# 619557 Global developmental delay Intellectual disability Tags
Amber List (moderate evidence)	ZNF423	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 19, OMIM# 614844 Tags
Amber List (moderate evidence)	ZNF483	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes primary ovarian failure MONDO:0005387 Tags
Amber List (moderate evidence)	ZNF513	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 58 MIM#613617 Tags
Amber List (moderate evidence)	ZNF668	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Tags
Red List (low evidence)	A2ML1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Noonan syndrome Tags
Red List (low evidence)	A4GALT	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, P1Pk system, p phenotype], MIM# 111400 Tags
Red List (low evidence)	AAAS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550 Tags
Red List (low evidence)	AANAT	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Delayed sleep phase, susceptibility to Tags
Red List (low evidence)	ABCB1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Inflammatory bowel disease 13} 612244 Tags
Red List (low evidence)	ABCC11	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Axillary odor, variation in] 117800 [Colostrum secretion, variation in] 117800 [Earwax, wet/dry] 117800 Tags
Red List (low evidence)	ABCG2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ABO	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, ABO system] MIM#616093 Tags
Red List (low evidence)	ACAD11	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ACADL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related Tags disputed
Red List (low evidence)	ACHE	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, Yt system] MIM#112100 Tags
Red List (low evidence)	ACKR1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Blood group, Duffy system MIM#110700 Tags
Red List (low evidence)	ACP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Lysosomal acid phosphatase deficiency, MIM# 200950 Tags
Red List (low evidence)	ACSL5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Diarrhoea 13, MIM# 620357 Tags
Red List (low evidence)	ACVR2B	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751 Tags
Red List (low evidence)	ADAMTS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related Tags
Red List (low evidence)	ADCY1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 44, MIM# 610154 Tags
Red List (low evidence)	ADCY8	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ADGRA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Retinitis pigmentosa, MONDO:0019200, ADGRA3-related Tags
Red List (low evidence)	ADH1B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780 {Alcohol dependence, protection against} MIM#103780 Tags
Red List (low evidence)	ADIPOQ	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Adiponectin deficiency MIM#612556 Tags
Red List (low evidence)	ADRA2B	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ADRB1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Resting heart rate] MIM#607276 [Short sleep, familial natural, 2] MIM#618591 Tags
Red List (low evidence)	ADRB2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Beta-2-adrenoreceptor agonist, reduced response to {Asthma, nocturnal, susceptibility to} MIM#600807 {Obesity, susceptibility to} MIM#601665 Tags
Red List (low evidence)	AFDN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cleft lip/palate, MONDO:0016044, AFDN-related Tags
Red List (low evidence)	AGBL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Corneal dystrophy, Fuchs endothelial, 8, MIM# 615523 Tags disputed
Red List (low evidence)	AGGF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	AGO3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, AGO3-related Tags
Red List (low evidence)	AGRP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Leanness, inherited} 601665 {Obesity, late-onset} 601665 Tags
Red List (low evidence)	AGTR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Red Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 Tags disputed
Red List (low evidence)	AHSG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Alopecia-intellectual disability syndrome 1 MIM#203650 infantile cortical hyperostosis Tags
Red List (low evidence)	AIMP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Leukodystrophy, hypomyelinating, 17 618006 Tags
Red List (low evidence)	AKAP10	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Cardiac conduction defect, susceptibility to} MIM#115080 sudden cardiac arrest MONDO:0007264 Tags
Red List (low evidence)	AKNA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia, MONDO:0016575, AKNA-related Tags
Red List (low evidence)	AKR1C2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes 46XY sex reversal 8, MIM# 614279 Obesity Tags
Red List (low evidence)	AKR1C4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {46XY sex reversal 8, modifier of}, MIM# 614279 Tags
Red List (low evidence)	AKR1E2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cataract, MONDO:0005129, AKR1E2-related Tags
Red List (low evidence)	ALDH1L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks Tags
Red List (low evidence)	ALDH2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ALG10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Tags
Red List (low evidence)	ALOX12	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ALOX5AP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	AMPD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Myopathy due to myoadenylate deaminase deficiency (MIM#615511) Tags disputed
Red List (low evidence)	AMPD3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [AMP deaminase deficiency, erythrocytic] MIM#612874 Tags
Red List (low evidence)	AMTN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Amelogenesis imperfecta, type IIIB Tags
Red List (low evidence)	ANGPTL8	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Low serum triglycerides Coronary artery disease Tags
Red List (low evidence)	ANKRD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy Dilated cardiomyopathy Tags
Red List (low evidence)	ANKRD24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related Tags
Red List (low evidence)	APOA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Apolipoprotein A-II deficiency {Hypercholesterolemia, familial, modifier of} MIM#143890 Tags
Red List (low evidence)	APOC3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Apolipoprotein C-III deficiency MIM#614028 Tags
Red List (low evidence)	APOC4-APOC2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	APPL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Maturity-onset diabetes of the young, type 14 MIM#616511 Tags
Red List (low evidence)	ARHGAP24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes FSGS, MONDO:0005363, ARHGAP24-related Tags
Red List (low evidence)	ARHGAP26	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ARHGAP42	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Interstitial lung disease systemic hypertension immunological abnormalities Tags
Red List (low evidence)	ARHGEF15	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ARHGEF6	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes MENTAL RETARDATION X-LINKED TYPE 46 Tags
Red List (low evidence)	ARID5B	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ARL11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ARL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082 Tags
Red List (low evidence)	ARL6IP6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cutis marmorata telangiectatica congenita Tags
Red List (low evidence)	ARMC1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ARMC8	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ARMS2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Macular degeneration, age-related, 8} MIM#613778 Tags
Red List (low evidence)	ASB10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Glaucoma 1, open angle, F MIM#603383 Tags
Red List (low evidence)	ASIP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ASMT	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ASNA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dilated cardiomyopathy, MONDO:0001644, ASNA1-related Tags
Red List (low evidence)	ASPN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Lumbar disc degeneration} MIM#603932 {Osteoarthritis susceptibility 3} MIM#607850 Tags
Red List (low evidence)	ASTE1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes palmar and plantar fibromatosis Tags
Red List (low evidence)	ASTL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Oocyte maturation defect 11, MIM# 619643 Tags
Red List (low evidence)	ATF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ATF3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ATG16L1	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Inflammatory bowel disease (Crohn disease) 10} MIM#611081 Tags
Red List (low evidence)	ATG4A	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Red Phenotypes infectious meningitis MONDO:0004796 Tags
Red List (low evidence)	ATG9A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Autophagy-associated immune dysregulation and hyperplasia Tags
Red List (low evidence)	ATP1A4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hemiplegic migraine Tags
Red List (low evidence)	ATP2C2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes language impairment, HP:0002463 Tags
Red List (low evidence)	ATP5F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Tags
Red List (low evidence)	ATP6V1C1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related Tags
Red List (low evidence)	ATP6V1C2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Distal renal tubular acidosis Tags
Red List (low evidence)	ATPAF2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ATRIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Seckel Syndrome, MONDO:0019342, ATRIP-related Tags
Red List (low evidence)	AVPR1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Autism spectrum disorder MONDO:0005258 Tags disputed
Red List (low evidence)	AXL	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Kallman syndrome, MONDO:0018800, AXL-related normosmic idiopathic hypogonadotropic hypogonadism Tags
Red List (low evidence)	B3GALNT1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Blood group, globoside system MIM#615021 Tags
Red List (low evidence)	BCAM	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	BCL2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	BCLAF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	BCO1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	BCR	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065 Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232 Tags
Red List (low evidence)	BDNF	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	BDP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 112, MIM#618257 Tags
Red List (low evidence)	BHLHE41	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Short sleep, familial natural, 1] 612975 Tags
Red List (low evidence)	BICC1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Renal dysplasia, cystic, susceptibility to} OMIM #601331 Tags
Red List (low evidence)	BMP5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Skeletal dysplasia, MONDO:0018230, BMP5-related Skeletal dysostosis and atrioventricular septal defect, no OMIM# Tags
Red List (low evidence)	BMP7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Non-syndromic metopic craniosynostosis Congenital abnormalities of the kidneys and urinary tract Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Tags
Red List (low evidence)	BRAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Pulmonary arterial hypertension Tags
Red List (low evidence)	BRWD1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Ciliary dyskinesia, primary, 51, MIM# 620438 Tags disputed
Red List (low evidence)	BSG	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, OK] MIM#111380 Tags
Red List (low evidence)	BTBD7	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	BTNL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Sarcoidosis, susceptibility to, 2} 612387 Tags
Red List (low evidence)	BUD23	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	C18orf32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), C18orf32-related Tags
Red List (low evidence)	C20orf24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994 Tags new gene name
Red List (low evidence)	C3orf58	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	C8G	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 17, MIM# 600852 Tags
Red List (low evidence)	CACNA2D3	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CACNB1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Other Royal Melbourne Hospital Phenotypes Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related Tags
Red List (low evidence)	CACNG2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 10, MIM#614256 Tags
Red List (low evidence)	CALCRL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Lymphatic malformation 8 (MIM# 618773) hydrops fetalis Tags
Red List (low evidence)	CALR3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy Tags refuted
Red List (low evidence)	CALU	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CAMLG	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation type IIz, OMIM# 620201 Tags
Red List (low evidence)	CAPN10	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Diabetes mellitus, noninsulin-dependent 1} 601283 Tags
Red List (low evidence)	CARD10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 89 and autoimmunity, MIM# 619632 Tags
Red List (low evidence)	CASP4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Hereditary susceptibility to infection, MONDO:0015979, CASP4-related Susceptibility to meliodiosis Tags
Red List (low evidence)	CATIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spermatogenic failure 54, MIM# 619379 Tags
Red List (low evidence)	CBWD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes CAKUT Tags
Red List (low evidence)	CBX2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes 46XY sex reversal 5, MIM# 613080 Tags
Red List (low evidence)	CCDC186	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epileptic encephalopathy Tags
Red List (low evidence)	CCDC62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spermatogenic failure 67, MIM# 619803 Tags
Red List (low evidence)	CCDC66	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes myopia MONDO:0001384, CCDC66-related Tags
Red List (low evidence)	CCL2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {HIV-1, resistance to} MIM#609423 {Mycobacterium tuberculosis, susceptibility to} MIM#607948 {Spina bifida, susceptibility to} MIM#182940 Tags
Red List (low evidence)	CCND1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Colorectal cancer, susceptibility to} MIM#114500 {Multiple myeloma, susceptibility to} MIM#254500 {von Hippel-Lindau syndrome, modifier of} MIM#193300 Tags
Red List (low evidence)	CCT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Leber's congenital amaurosis Tags
Red List (low evidence)	CD207	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Birbeck granule deficiency, MIM# 613393 Tags
Red List (low evidence)	CD209	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Dengue fever, protection against} MIM#614371 {HIV type 1, susceptibility to} MIM#609423 {Mycobacterium tuberculosis, susceptibility to} MIM#607948 Tags
Red List (low evidence)	CD44	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, Indian system] 609027 Tags
Red List (low evidence)	CDC40	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 15, MIM# 619302 microcephaly seizures Tags
Red List (low evidence)	CDC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 5 (MIM#613805) Tags
Red List (low evidence)	CDH15	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 3, MIM#612580 Tags disputed
Red List (low evidence)	CDH4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes coloboma MONDO#0001476, CDH4-related Tags
Red List (low evidence)	CDK4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Melanoma, cutaneous malignant, 3} MIM#609048 Tags
Red List (low evidence)	CDK5R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related Tags
Red List (low evidence)	CDKAL1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CENPE	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly 13, primary, autosomal recessive (MIM#616051) Tags
Red List (low evidence)	CENPP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autosomal dominant nonsyndromic hearing loss MONDO:0019587 Tags
Red List (low evidence)	CEP192	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes microcephaly, short stature, limb-extremity dysplasia, and reduced testicular size Tags
Red List (low evidence)	CFAP221	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	CFHR4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CHD1L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes CAKUT Tags disputed
Red List (low evidence)	CHI3L1	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Asthma-related traits, susceptibility to, 7} 611960 {Schizophrenia, susceptibility to} 181500 Tags
Red List (low evidence)	CHIT1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Chitotriosidase deficiency] MIM#614122 Tags
Red List (low evidence)	CHRM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related Tags
Red List (low evidence)	CHRM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Tags
Red List (low evidence)	CHRNA5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Lung cancer susceptibility 2 (MIM#612052) Nicotine dependence, susceptibility to (MIM#612052) Tags
Red List (low evidence)	CHRNA7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes intellectual disability seizures hypotonia Tags cnv
Red List (low evidence)	CHST8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peeling skin syndrome, MONDO:0019347, CHST8-realted Tags
Red List (low evidence)	CIDEC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Lipodystrophy, familial partial, type 5, MIM# 615238 Tags
Red List (low evidence)	CILP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CISH	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CLASP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder MONDO:0700092, CLASP1-related Tags
Red List (low evidence)	CLDN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Susceptibility to pancreatitis Azoospermia, obstructive, with nephrolithiasis, MIM# 301060 Tags
Red List (low evidence)	CLEC7A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Aspergillosis, susceptibility to} MIM#614079 candidiasis, familial, 4, autosomal recessive MIM#613108 Tags
Red List (low evidence)	CLIC2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 32, 300886 Tags
Red List (low evidence)	CMAS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CMAS-related Tags
Red List (low evidence)	CNGA2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Congenital anosmia Tags
Red List (low evidence)	CNRIP1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Deafness, autosomal dominant 58 MIM#615654 Tags
Red List (low evidence)	CNTN3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, CNTN3-related Tags
Red List (low evidence)	CNTN4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CNTN6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CNTN6-related Tags disputed
Red List (low evidence)	COA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058 Tags
Red List (low evidence)	COA5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 Tags
Red List (low evidence)	COG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIq (MIM# 617395) Tags
Red List (low evidence)	COL14A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Punctate palmoplantar keratoderma type 1B Tags
Red List (low evidence)	COMT	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	COQ5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary 9, MIM#619028 Cerebellar ataxia encephalopathy generalized tonic-clonic seizures intellectual disability Tags
Red List (low evidence)	CORIN	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Preeclampsia/eclampsia 5 MIM#614595 Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Tags
Red List (low evidence)	COX18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX18-related Tags
Red List (low evidence)	COX4I2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red List (low evidence)	COX8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 Tags
Red List (low evidence)	CPA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epilepsy, familial temporal lobe, 5, MIM#614417 Febrile seizures, familial, 11, MIM#614418 Tags disputed refuted
Red List (low evidence)	CPN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Carboxypeptidase N deficiency MIM#212070 Tags
Red List (low evidence)	CPT1B	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CR1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CRACR2A	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated Late onset combined immunodeficiency Tags
Red List (low evidence)	CREB1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Agenesis of corpus callosum, MONDO:0009022 Tags
Red List (low evidence)	CRYGA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Cataract Tags refuted
Red List (low evidence)	CRYGB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cataract 39, multiple types, autosomal dominant MIM#615188 Tags
Red List (low evidence)	CRYL1	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CSNK1E	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related Tags
Red List (low evidence)	CTHRC1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Barrett esophagus/esophageal adenocarcinoma MIM#614266 Tags
Red List (low evidence)	CTSB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Keratolytic winter erythema, MIM# 148370 Tags SV/CNV
Red List (low evidence)	CWH43	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hydrocephalus MONDO:0001150, CWH43-related Tags cnv
Red List (low evidence)	CX3CR1	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Coronary artery disease, resistance to}, MIM# 607339 {Macular degeneration, age-related, 12} 613784 {Rapid progression to AIDS from HIV1 infection} 609423 Tags
Red List (low evidence)	CYBRD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Iron metabolism disease, MONDO:0002279, CYBRD1-related Tags
Red List (low evidence)	CYP1A2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CYP2A6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Coumarin resistance MIM#122700 Tags
Red List (low evidence)	CYP2B6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Efavirenz, poor metabolism of MIM#614546 Tags
Red List (low evidence)	CYP2C19	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Voriconazole Tags
Red List (low evidence)	CYP2C8	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Drug metabolism, altered, CYP2C8-related} 618018 Tags
Red List (low evidence)	CYP2D6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Codeine sensitivity} MIM#608902 {Debrisoquine sensitivity} MIM#608902 Tags
Red List (low evidence)	DAB1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 37 MIM#615945 Ataxia and intellectual disability Tags
Red List (low evidence)	DACH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Primary ovarian failure, MONDO:0005387, DACH2-related Tags
Red List (low evidence)	DAZ1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DAZ2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DAZ3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DAZ4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DCAF13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neuromuscular disease (MONDO#0019056), DCAF13-related Tags
Red List (low evidence)	DDIT3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DDX54	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DDX54-related Tags
Red List (low evidence)	DECR1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DGCR8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Early-onset multinodular goiter and schwannomatosis Tags
Red List (low evidence)	DHX34	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability congenital anomalies Tags
Red List (low evidence)	DIABLO	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 64, MIM# 614152 Tags
Red List (low evidence)	DIAPH2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DIAPH3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal dominant, 1, MIM#609129 Tags
Red List (low evidence)	DISC1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Schizophrenia 9, susceptibility to} MIM#604906 Tags
Red List (low evidence)	DLEC1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DLG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Non-syndromic cleft lip and palate Tags
Red List (low evidence)	DLX4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Orofacial cleft 15, MIM# 616788 Tags
Red List (low evidence)	DNAH14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Tags disputed
Red List (low evidence)	DNAJA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability seizures Tags
Red List (low evidence)	DNASE1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Systemic lupus erythematosus, susceptibility to} - MIM#152700 Tags
Red List (low evidence)	DPP10	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DPP6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 33 (MIM#616311) Tags disputed SV/CNV
Red List (low evidence)	DRD2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Combined dystonia, MONDO:0020065, DRD2-related dystonia chorea anxiety ataxia orofacial dyskinesia tremor memory problems Tags
Red List (low evidence)	DRD3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Essential tremor, hereditary, 1} - MIM#190300 {Schizophrenia, susceptibility to} - MIM#181500 Tags
Red List (low evidence)	DRD5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DSCR3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), DSCR3-related Tags
Red List (low evidence)	DSG3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226 Tags
Red List (low evidence)	DTD1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	DUSP6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269 Tags
Red List (low evidence)	DUX4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Fascioscapulohumeral muscular dystrophy, MIM#158900 Tags SV/CNV
Red List (low evidence)	ECE1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 Tags
Red List (low evidence)	ECEL1P2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	EDC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mental retardation, autosomal recessive 50, MIM# 616460 Tags
Red List (low evidence)	EFHC1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 Tags disputed
Red List (low evidence)	EGF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypomagnesemia 4, renal, MIM#611718 Tags
Red List (low evidence)	EGFR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Inflammatory skin and bowel disease, neonatal, 2 OMIM # 616069 Tags
Red List (low evidence)	EHBP1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Prostate cancer, hereditary, 12} MIM#611868 Tags
Red List (low evidence)	EIF2AK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability white matter abnormalities Tags
Red List (low evidence)	EIF4E	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Autism, susceptibility to, 19} MIM#615091 Tags
Red List (low evidence)	EIF4G1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Parkinson disease 18} 614251 Tags disputed
Red List (low evidence)	ELMOD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder MONDO:0700092,ELMOD1-related Tags
Red List (low evidence)	ELMOD2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ELMOD3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 88, MIM# 615429 Deafness, autosomal dominant 81, MIM# 619500 Tags
Red List (low evidence)	ELOC	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes von Hippel-Lindau disease, MONDO:0008667 renal cell carcinoma, MONDO:0005086 retinal hemangioblastoma, MONDO:0003343 Tags
Red List (low evidence)	ENO1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Polymicrogyria, MONDO:0000087, ENO1-related Tags
Red List (low evidence)	EOMES	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly, MONDO:0001149, EOMES-related Tags
Red List (low evidence)	EPB41L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 11, MIM# 614257 Tags
Red List (low evidence)	EPHA10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes postlingual non-syndromic genetic hearing loss, MONDO:0016298 Tags
Red List (low evidence)	EPHA3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	EPX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Eosinophil peroxidase deficiency] MIM#261500 Tags
Red List (low evidence)	ERBB2	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Visceral neuropathy, familial, 2, autosomal recessive, MIM# 619465 Tags
Red List (low evidence)	ERC1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ERMAP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Blood types Tags
Red List (low evidence)	ERMARD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Periventricular nodular heterotopia 6, MIM#615544 Tags
Red List (low evidence)	ETF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ETS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ETS1-related Tags
Red List (low evidence)	ETV1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ETV2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes multiple fetal anomalies congenital heart disease MONDO:000545, ETV2-related vertebral malformations Tags
Red List (low evidence)	EWSR1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	EXOSC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 1F, MIM# 619304 Tags
Red List (low evidence)	EYA3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Oculo-auriculo-vertebral spectrum (OAVS), MONDO:0015397, EYA3-related Tags
Red List (low evidence)	FAAH2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Tags
Red List (low evidence)	FAAP24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related Tags
Red List (low evidence)	FAM83G	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related Tags
Red List (low evidence)	FBF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	FBLN1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180 Tags
Red List (low evidence)	FBLN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Pulmonary arterial hypertension MONDO:0015924, FBLN2-related Tags
Red List (low evidence)	FBXL7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hennekam lymphangiectasia-lymphedema syndrome Tags
Red List (low evidence)	FBXW4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Split-hand/foot malformation 3 syndrome MIM#246560 Tags
Red List (low evidence)	FCGR2B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Systemic lupus erythematosus, susceptibility to} MIM#152700 Tags
Red List (low evidence)	FFAR4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Obesity, susceptibility to} MIM#607514 Tags
Red List (low evidence)	FIP1L1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	FLRT3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) Tags
Red List (low evidence)	FLT3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	FMNL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes inflammatory bowel disease, MONDO:0005265, FMNL2-related Tags
Red List (low evidence)	FOXD3	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Autoimmune disease, susceptibility to, 1 MONDO:0011919 Tags disputed
Red List (low evidence)	FOXL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Otosclerosis 11 #MIM620576 Tags
Red List (low evidence)	FPR1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Periodontitis Tags
Red List (low evidence)	FRZB	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Osteoarthritis susceptibility 1} MIM#165720 Tags
Red List (low evidence)	FSCN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 30 MIM#607921 Macular degeneration Tags
Red List (low evidence)	FST	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cleft lip and palate Tags
Red List (low evidence)	FSTL5	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes isolated club-foot iTEV Talipes equinovarus Tags
Red List (low evidence)	FUT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Bombay phenotype] MIM#616754 Tags
Red List (low evidence)	FUT2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Bombay phenotype, digenic] 616754 {Norwalk virus infection, resistance to} {Vitamin B12 plasma level QTL1} 612542 Tags
Red List (low evidence)	FUT6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Fucosyltransferase 6 deficiency, MIM# 613852 Tags
Red List (low evidence)	FXYD6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Schizophrenia MONDO:0005090 Tags
Red List (low evidence)	FZD3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	G6PC2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GABRA6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Benign familial inherited epilepsy Childhood absence epilepsy Tags
Red List (low evidence)	GABRG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy MONDO:0100062 Tags
Red List (low evidence)	GALNT12	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GAS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Holoprosencephaly Tags
Red List (low evidence)	GATAD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Cardiomyopathy, dilated, 2B MIM#614672 Tags
Red List (low evidence)	GATB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial cardiomyopathy Tags
Red List (low evidence)	GATC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial cardiomyopathy Tags
Red List (low evidence)	GC	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GCKR	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GDF3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microphthalmia with coloboma 6, MIM# 613703 Microphthalmia, isolated 7, MIM# 613704 Tags
Red List (low evidence)	GDNF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Hirschsprung disease, susceptibility to, 3} MIM#613711 Tags
Red List (low evidence)	GET4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Congenital disorder of glycosylation,, type IIy MIM#620200 Tags
Red List (low evidence)	GIGYF2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Parkinson disease 11} MIM#607688 Tags
Red List (low evidence)	GINS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome with craniosynostosis Tags
Red List (low evidence)	GLCCI1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Glucocorticoid therapy, response to} 614400 Tags
Red List (low evidence)	GLIS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Increased ocular pressure Glaucoma Tags
Red List (low evidence)	GLRX	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GLRX2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GLRX3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GNAS-AS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pseudohypoparathyroidism type 1b MIM no: 603233 Tags SV/CNV
Red List (low evidence)	GOLGA3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	GOT1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Aspartate aminotransferase, serum level of, QTL1, MIM# 614419 Tags
Red List (low evidence)	GPKOW	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes male-lethal microcephaly with intrauterine growth restriction Tags
Red List (low evidence)	GPX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164 Tags
Red List (low evidence)	GRAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal recessive 114, MIM# 618456 Tags
Red List (low evidence)	GRIK5	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GSPT2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Red Phenotypes Intellectual disability Tags
Red List (low evidence)	GSTO1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Deficiency of Human Glutathione Transferase Omega 1 Tags
Red List (low evidence)	GSTO2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	GTF3A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes herpes simplex encephalitis MONDO:0012521 Tags
Red List (low evidence)	GUF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 40, MIM# 617065 Tags
Red List (low evidence)	GYPA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, MNSs system] 111300 Tags
Red List (low evidence)	GYPB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, Ss] 111740 Tags
Red List (low evidence)	GYPC	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, Gerbich] MIM#616089 Tags
Red List (low evidence)	H19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Expert Review Red Phenotypes Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation) Affected tissue: all Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome Tags
Red List (low evidence)	HAO1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HCRT	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Narcolepsy 1 , MIM# 161400 Tags
Red List (low evidence)	HEPHL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Abnormal hair, joint laxity, and developmental delay (MIM#261990) Tags
Red List (low evidence)	HEY2	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital heart disease MONDO:0005453 thoracic aortic aneurysms Tags
Red List (low evidence)	HHIP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HIBADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Organic aciduria Tags
Red List (low evidence)	HKDC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Retinitis pigmentosa 92, MIM# 619614 Tags
Red List (low evidence)	HLA-A	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HLA-B	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HLA-C	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HLA-DRA	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HLA-DRB1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HMCN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Macular degeneration, age-related, 1} MIM#603075 age related macular degeneration 1 MONDO:0011285 Tags
Red List (low evidence)	HOXA4	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microtia-Atresia CAKUT Tags
Red List (low evidence)	HOXB6	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypospadias Tags
Red List (low evidence)	HOXD10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, foot deformity of Vertical talus, congenital (MIM#192950) Tags
Red List (low evidence)	HOXD4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Anhaptoglobinemia] 614081 [Hypohaptoglobinemia] 614081 Tags
Red List (low evidence)	HS3ST6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Hereditary angioedema-8 (HAE8), MIM#619367 Tags
Red List (low evidence)	HS6ST1	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Tags
Red List (low evidence)	HSP90B2P	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HSPB3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type IIC, MIM# 613376 Tags
Red List (low evidence)	HTR1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Periodic fever, menstrual cycle dependent, MIM# 614674 Tags
Red List (low evidence)	HTR3C	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HTR3D	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HYKK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 Tags
Red List (low evidence)	ICAM1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ICAM4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, Landsteiner-Wiener] 111250 Tags
Red List (low evidence)	IFITM3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Influenza, severe, susceptibility to} 614680 Tags
Red List (low evidence)	IFRD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Hereditary spastic paraplegia peripheral neuropathy ataxia Tags
Red List (low evidence)	IFT57	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XVIII, MIM# 617927 Tags
Red List (low evidence)	IGBP1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Tags
Red List (low evidence)	IL12RB2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Susceptibility to mycobacteria and Salmonella Tags
Red List (low evidence)	IL13	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Allergic rhinitis, susceptibility to} 607154 {Asthma, susceptibility to} 600807 Tags
Red List (low evidence)	IL17F	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 6, autosomal dominant, MIM# 613956 Tags
Red List (low evidence)	IL18BP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes {?Hepatitis, fulminant viral, susceptibility to} 618549 Tags
Red List (low evidence)	IL1R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Chronic recurrent multifocal osteomyelitis 3, MIM# 259680 Tags
Red List (low evidence)	IL1RAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Steroid-sensitive nephrotic syndrome Tags
Red List (low evidence)	IL21	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 11, MIM# 615767 Tags
Red List (low evidence)	IL31RA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Amyloidosis, primary localized cutaneous, 2, MIM# 613955 Tags
Red List (low evidence)	IL37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398 Tags
Red List (low evidence)	IL4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	IL6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Crohn disease-associated growth failure} 266600 {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} 108010 {Rheumatoid arthritis, systemic juvenile} 604302 {Kaposi sarcoma, susceptibility to} 148000 {Type 1 diabetes mellitus} 222100 {Type 2 diabetes mellitus} 125853 Tags
Red List (low evidence)	ILF2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ILK	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	IMMP2L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Autism Tags
Red List (low evidence)	ING1	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Squamous cell carcinoma, head and neck, somatic, MIM# 275355 Tags
Red List (low evidence)	ING3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	INSRR	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	INTS6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 Tags
Red List (low evidence)	IQCG	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	IQGAP3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hereditary neuropathy Tags
Red List (low evidence)	IRAK1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Susceptibility to bacterial infections Tags SV/CNV
Red List (low evidence)	IRAK2	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Immune dysregulation, MONDO:0957790, IRAK2-related Tags
Red List (low evidence)	IRAK3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	IRF5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Inflammatory bowel disease 14} 612245 {Systemic lupus erythematosus, susceptibility to, 10} 612251 Tags
Red List (low evidence)	IRGM	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Inflammatory bowel disease (Crohn disease) 19} MIM#612278 Tags
Red List (low evidence)	IRS1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Coronary artery disease, susceptibility to} {Type 2 diabetes mellitus, susceptibility to}, MIM# 125853 Tags
Red List (low evidence)	IRX4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ventricular septal defect Tags
Red List (low evidence)	ITGA9	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ITGAM	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ITPKB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Severe combined immunodeficiency MONDO:0015974, absent T cells, present B cells and NK cells Tags
Red List (low evidence)	ITPKC	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	JPT1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	KAAG1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	KALRN	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Susceptibility to coronary heart disease Intellectual disability Tags
Red List (low evidence)	KANK1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome Cerebral palsy, spastic quadriplegic, 2, MIM#612900 Tags
Red List (low evidence)	KAT2B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related cataract MONDO:0005129, KAT2B-related Tags
Red List (low evidence)	KCNAB3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related Tags
Red List (low evidence)	KCNE3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome Tags
Red List (low evidence)	KCNE5	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atrial fibrillation Tags
Red List (low evidence)	KCNIP4	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes seizures epilepsy Tags
Red List (low evidence)	KCNJ18	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 Tags
Red List (low evidence)	KCNMB1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Hypertension, diastolic, resistance to} 608622 Tags
Red List (low evidence)	KCNQ1OT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Expert Review Red Phenotypes Beckwith-Wiedemann syndrome OMIM:130650 Russell-Silver Syndrome Tags
Red List (low evidence)	KCTD13	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Tags
Red List (low evidence)	KDM7A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cerebral palsy Tags
Red List (low evidence)	KEL	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, Kell] 110900 Tags
Red List (low evidence)	KIAA0319	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Dyslexia, susceptibility to, 2}, MIM#600202 Tags
Red List (low evidence)	KIF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Braddock-Carey syndrome 2 - MIM#619981 Tags
Red List (low evidence)	KIF17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microphthalmia Coloboma Tags
Red List (low evidence)	KIF1B	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 2A1 MIM#118210 Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay Tags
Red List (low evidence)	KIF20A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cardiomyopathy, familial restrictive, 6, MIM# 619433 Tags
Red List (low evidence)	KIF26B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Tags
Red List (low evidence)	KIF27	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	KIRREL3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Intellectual disability Tags refuted
Red List (low evidence)	KLC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Complicated hereditary spastic paraplegia Tags
Red List (low evidence)	KLF10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes HCM Tags
Red List (low evidence)	KLF11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Maturity-onset diabetes of the young, type VII MIM#610508 Tags
Red List (low evidence)	KLF14	1 review 1 red	Unknown	Sources Expert Review Red Other Phenotypes diabetes mellitus MONDO:0005015 Tags
Red List (low evidence)	KLF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Pulmonary arterial hypertension MONDO:0015924, KLF2-related Tags
Red List (low evidence)	KLF6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	KLHDC8B	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Hodgkin lymphoma, susceptibility to} 236000 Tags
Red List (low evidence)	KLHL13	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Tags
Red List (low evidence)	KLK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Kallikrein, decreased urinary activity of] 615953 Pulmonary arterial hypertension MONDO:0015924 Tags
Red List (low evidence)	KLLN	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	KMO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes pellagra MONDO:0019975 Tags
Red List (low evidence)	KRT18	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cirrhosis, cryptogenic , MIM#215600 Tags
Red List (low evidence)	KRT75	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Pseudofolliculitis barbae, susceptibility to} 612318 Tags
Red List (low evidence)	KRT8	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cirrhosis, cryptogenic, MIM# 215600 Tags
Red List (low evidence)	KSR2	1 review 1 red	Other	Sources Expert Review Expert Review Red Phenotypes Obesity Tags
Red List (low evidence)	L3MBTL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Expert Review Red Phenotypes Affected tissue: myeloid lineages Phenotype resulting from under expression: lymphoid malignancy Tags
Red List (low evidence)	LAMA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1JJ (MIM#615235) Tags disputed
Red List (low evidence)	LAMC1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	LDHB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Lactate dehydrogenase B deficiency, MIM# 614128 Tags
Red List (low evidence)	LEFTY2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy Tags
Red List (low evidence)	LHX8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Inherited premature ovarian failure, MONDO:0019852, LHX8-related Tags
Red List (low evidence)	LIMS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue MIM#616827 Tags
Red List (low evidence)	LIPI	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	LIPN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 8, MIM# 613943 Tags
Red List (low evidence)	LLGL1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	LONP2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	LOXL1	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Exfoliation syndrome, susceptibility to, MIM#177650 Tags
Red List (low evidence)	LRP8	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	LRRC8A	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	LSM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes intellectual disability congenital abnormalities Tags
Red List (low evidence)	LSM11	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Aicardi-Goutieres syndrome 8, MIM# 619486 Tags
Red List (low evidence)	LTA	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Myocardial infarction, susceptibility to, MIM# 608446 Tags
Red List (low evidence)	LTC4S	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Leukotriene C4 synthase deficiency, MIM# 614037 Tags
Red List (low evidence)	LY96	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Inborn error of immunity, MONDO:0003778, LY96-related Tags
Red List (low evidence)	LZTS1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Esophageal squamous cell carcinoma, somatic, MIM# 133239 Tags
Red List (low evidence)	MACROD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes intellectual disability dysmorphic features microcephaly Tags
Red List (low evidence)	MAD2L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Fanconi anemia, complementation group V, MIM# 617243 Tags
Red List (low evidence)	MAN2A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Tags
Red List (low evidence)	MAOB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Cerebral palsy Tags
Red List (low evidence)	MAP1LC3B2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 Tags
Red List (low evidence)	MAPK8IP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Susceptibility to diabetes mellitus, noninsulin-dependent MIM#125853 Tags
Red List (low evidence)	MARK4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder (MONDO:0700092), MARK4-related Tags
Red List (low evidence)	MASP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes MASP2 deficiency, MIM# 613791 Tags
Red List (low evidence)	MAST2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Thrombophilia venous thrombosis Tags
Red List (low evidence)	MBL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Chronic infections, due to MBL deficiency} 614372 Tags
Red List (low evidence)	MBNL1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MC3R	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Obesity, severe, susceptibility to, BMIQ9} 602025 Tags
Red List (low evidence)	MCF2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Perisylvian polymicrogyria Tags
Red List (low evidence)	MCF2L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes vascular malformation MONDO:0024291, MCF2L-related Tags
Red List (low evidence)	MCM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Deafness, autosomal dominant 70, MIM# 616968 Tags
Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Meier-Gorlin syndrome 8 (MIM#617564) Tags
Red List (low evidence)	MDM2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Lessel-Kubisch syndrome, MIM# 618681 Tags
Red List (low evidence)	ME2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes inborn disorder of energy metabolism MONDO:0019243 Tags
Red List (low evidence)	MEF2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Coronary artery disease, autosomal dominant, 1} 608320 Tags
Red List (low evidence)	MEIS1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MEPCE	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability seizures Tags
Red List (low evidence)	METAP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability, aggression, neurodevelopmental delay Tags
Red List (low evidence)	MICA	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MICB	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MIEF1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Optic atrophy 14 (MIM#620550) Tags
Red List (low evidence)	MIEF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 49, MIM# 619024 Progressive muscle weakness Exercise intolerance Ragged red and COX negative fibres Complex I and IV deficiency Tags
Red List (low evidence)	MIF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302 Tags
Red List (low evidence)	MIR145	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes multisystemic smooth muscle dysfunction syndrome (MONDO:0013452), MIR145-related Tags
Red List (low evidence)	MIR182	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MIR183	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MIR5004	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MIR936	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MLX	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MMP23A	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MMP25	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MMP3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Coronary heart disease, susceptibility to, 6} 614466 Tags
Red List (low evidence)	MMS19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodegenerative disease, MONDO:0005559, MMS19-related Tags
Red List (low evidence)	MOG	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Narcolepsy 7 , MIM# 614250 Tags
Red List (low evidence)	MPP3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MPST	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MRPL12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Growth retardation neurological deterioration mitochondrial translation deficiency Combined oxidative phosphorylation deficiency 45, MIM#618951 Tags
Red List (low evidence)	MRPL42	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Red List (low evidence)	MRPS25	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 50, MIM# 619025 Dyskinetic cerebral palsy Mitochondrial myopathy Partial agenesis of the corpus callosum Tags
Red List (low evidence)	MRPS28	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Intrauterine growth retardation developmental delay dysmorphism Tags
Red List (low evidence)	MRVI1	1 review 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes Moyamoya disease MONDO:0016820 Tags new gene name
Red List (low evidence)	MSMB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Prostate cancer, hereditary, 13} 611928 Tags
Red List (low evidence)	MSR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Barrett esophagus/esophageal adenocarcinoma, MIM# 614266 Tags
Red List (low evidence)	MSTN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Muscle hypertrophy, MIM# 614160 Tags
Red List (low evidence)	MT-TP	1 review	MITOCHONDRIAL	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MUC5B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500 Tags 5'UTR
Red List (low evidence)	MUC7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Asthma, protection against} MIM#600807 Tags
Red List (low evidence)	MXI1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MYADML2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles Tags SV/CNV
Red List (low evidence)	MYBPC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Fetal akinesia Hydrops Hygroma Multiple pterygium Tags
Red List (low evidence)	MYC	1 review 1 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Burkitt lymphoma, somatic, MIM# 113970 Tags
Red List (low evidence)	MYEF2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MYF6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Centronuclear myopathy, MONDO:0018947 Tags
Red List (low evidence)	MYH1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Red List (low evidence)	MYH7B	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MYLK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 1, digenic, 192600 Tags
Red List (low evidence)	MYO1A	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	MYO1H	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482 Tags
Red List (low evidence)	MYOF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Hereditary angioedema-7 (HAE7), MIM#619366 Tags
Red List (low evidence)	MYOM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Red List (low evidence)	MYOZ2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 16 MIM#613838 Tags
Red List (low evidence)	NAA30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, NAA30-related Tags
Red List (low evidence)	NAT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Acetylation, slow] - MIM#243400 Tags
Red List (low evidence)	NAT6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Auroneurodental syndrome, MIM# 620830 Tags new gene name
Red List (low evidence)	NAT8L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red List (low evidence)	NCAPH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly 23, primary, autosomal recessive 617985 Tags
Red List (low evidence)	NCOA3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes non-syndromic hearing loss Tags
Red List (low evidence)	NCOA4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NCR3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NDN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Prader-Willi syndrome, MIM# 176270 Tags
Red List (low evidence)	NDUFA7	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Optic atrophy, MONDO:0003608, NDUFA7-related Tags
Red List (low evidence)	NDUFAF7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pathologic myopia Tags
Red List (low evidence)	NDUFS5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NFE2L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Syndromic disease, MONDO:0002254 Tags
Red List (low evidence)	NFKBID	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NFKBIL1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Rheumatoid arthritis, susceptibility to} - MIM#180300 Tags
Red List (low evidence)	NHLH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755 Tags
Red List (low evidence)	NIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Seckel syndrome 7, MIM#614851 Tags
Red List (low evidence)	NKX2-3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intestinal varicosities Tags
Red List (low evidence)	NLGN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes intellectual disability autism Tags
Red List (low evidence)	NME3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hypotonia Neurodegeneration Abnormal mitochondrial dynamics Tags
Red List (low evidence)	NME8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 6, MIM# 610852 Tags
Red List (low evidence)	NOL3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myoclonus, familial, 1 MIM#614937 Tags
Red List (low evidence)	NOS2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Malaria, resistance to} 611162 Disseminated CMV disease Tags
Red List (low evidence)	NOS3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Hypertension, susceptibility to}, MIM#145500 {Ischemic stroke, susceptibility to}, MIM# 601367 {Hypertension, pregnancy-induced}, MIM# 189800 Tags
Red List (low evidence)	NOX1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Inflammatory bowel disease, MONDO:0005265, NOX1-related Tags
Red List (low evidence)	NPAS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Non-obstructive azoospermia Tags
Red List (low evidence)	NPPC	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes short stature and non-specific skeletal anomalies - MONDO#0014551 Tags
Red List (low evidence)	NPSR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Asthma, susceptibility to, 2} 608584 Tags
Red List (low evidence)	NR0B2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Obesity, mild, early-onset, MIM# 601665 Tags
Red List (low evidence)	NR2E1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NR4A3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NSMF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 Tags
Red List (low evidence)	NTF4	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Glaucoma 1, open angle, 1O - MIIM#613100 Tags disputed
Red List (low evidence)	NTNG1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NUF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes microcephaly short stature bilateral vocal cord paralysis micrognathia atrial septal defect Tags
Red List (low evidence)	NUP205	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 13, MIM#616893 Tags
Red List (low evidence)	NUP37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nephrotic syndrome Microcephaly 24, primary, autosomal recessive, MIM# 618179 Tags
Red List (low evidence)	OGG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Renal cell carcinoma, clear cell, somatic MIM#144700 Tags
Red List (low evidence)	OPCML	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ovarian cancer, somatic, MIM#167000 Tags
Red List (low evidence)	OR2J3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ORMDL3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	OSR1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	OSTC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red List (low evidence)	OXSR1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	P4HA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Joint hypermobility Contractures Hypotonia Mild skeletal dysplasia without bone fragility High myopia Tags
Red List (low evidence)	PACRG	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PACSIN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Systemic lupus erythematosus, MONDO:0007915, PACSIN1-related Tags
Red List (low evidence)	PADI4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Susceptibility to rheumatoid arthritis Tags
Red List (low evidence)	PAICS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Polyhydramnios multiple congenital abnormalities Tags
Red List (low evidence)	PAK6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PALLD	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PAX4	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Maturity-onset diabetes of the young, type IX MIM#612225 Diabetes mellitus, type 2, MIM# 125853 Tags refuted
Red List (low evidence)	PCDH10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Autism Tags
Red List (low evidence)	PCSK2	1 review 1 red	Unknown	Sources Expert Review Red Other Phenotypes diabetes mellitus MONDO:0005015 Tags
Red List (low evidence)	PDCD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 Tags
Red List (low evidence)	PDE11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475 Tags disputed
Red List (low evidence)	PDGFD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Pulmonary arterial hypertension MONDO:0015924, PDGFD-related Tags
Red List (low evidence)	PDGFRL	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PDHA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spermatogenic failure-70, MIM#619828 Tags
Red List (low evidence)	PDIA2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bicuspid aortic valve Tags
Red List (low evidence)	PDIA5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PDLIM3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy Tags SV/CNV
Red List (low evidence)	PER2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Advanced sleep phase syndrome, familial, 1 - MIM#604348 Tags
Red List (low evidence)	PET117	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063 Developmental delay Regression Complex IV deficiency Tags
Red List (low evidence)	PHF11	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PHYKPL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [?Phosphohydroxylysinuria] 615011 Tags
Red List (low evidence)	PIGF	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Tags
Red List (low evidence)	PIK3R5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ataxia-oculomotor apraxia 3, OMIM #615217 Tags
Red List (low evidence)	PITPNM3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PLA2G7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Platelet-activating factor acetylhydrolase deficiency MIM#614278 Tags
Red List (low evidence)	PLCB3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Tags
Red List (low evidence)	PLEK	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Deafness, autosomal dominant 58 MIM#615654 Tags
Red List (low evidence)	PLEKHN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sensory Neuropathy Tags
Red List (low evidence)	PLXNC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Malformations of cortical development Tags
Red List (low evidence)	PMEL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oculocutaneous albinism, PMEL-related MONDO:0018910 Tags
Red List (low evidence)	PNPLA3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Susceptibility to nonalcoholic fatty liver disease Tags
Red List (low evidence)	PNPLA4	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	POLE2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined immunodeficiency Lymphopaenia Lack of TRECS, absent proliferation in response to antigens Hypoglobulinaemia Recurrent infections, disseminated BCG infections Autoimmunity Facial dysmorphism Tags
Red List (low evidence)	POLR3F	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 Tags
Red List (low evidence)	PON1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Coronary artery disease, susceptibility to} Tags
Red List (low evidence)	POU5F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Premature ovarian failure Tags
Red List (low evidence)	POU6F2	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PPA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Galactosaemia, MONDO:0018116 Tags
Red List (low evidence)	PPARA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Hyperapobetalipoproteinemia, susceptibility to} Tags
Red List (low evidence)	PPCDC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes dilated cardiomyopathy MONDO:0005021 Tags
Red List (low evidence)	PPIA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes amyotrophic lateral sclerosis, MONDO:0004976 Tags
Red List (low evidence)	PPID	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Stutter disorder, (MONDO:0000723), PPID-related Tags
Red List (low evidence)	PPM1E	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PPM1F	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes sclerosing cholangitis short stature hypothyroidism abnormal tongue pigmentation Tags
Red List (low evidence)	PPP1R3A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Insulin resistance, severe, digenic 125853 Tags
Red List (low evidence)	PPP3R1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Deafness, autosomal dominant 58 MIM#615654 Tags
Red List (low evidence)	PRDM10	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Birt-Hogg-Dube syndrome 2, MIM# 620459 Tags
Red List (low evidence)	PRDM8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Epilepsy, progressive myoclonic, 10 MIM#616640 Tags
Red List (low evidence)	PRICKLE1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 1B, MIM# 612437 Tags
Red List (low evidence)	PRICKLE3	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Leber’s hereditary optic neuropathy MIM#535000 Tags
Red List (low evidence)	PRIMA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Frontal Lobe Epilepsy MONDO:0002612 Tags
Red List (low evidence)	PRIMPOL	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Myopia 22, autosomal dominant, MIM# 615420 Tags disputed
Red List (low evidence)	PRKACG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Bleeding disorder, platelet-type, 19, MIM# 616176 Tags
Red List (low evidence)	PRKCH	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PRMT9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0100500, PRMT9-related Tags
Red List (low evidence)	PRODH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes hydroxyprolinemia MONDO:0009374 Tags
Red List (low evidence)	PROSER1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Syndromic disease MONDO:0002254, PROSER1-related Tags founder
Red List (low evidence)	PSMA5	1 review 1 red	Other	Sources Expert Review Red Literature Phenotypes Inborn error of immunity, MONDO:0003778, PSMA5-related PRAAS/CANDLE Tags
Red List (low evidence)	PSMC1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071 Tags
Red List (low evidence)	PSMC2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PSMG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Proteasome-associated autoinflammatory syndrome 4, MIM# 619183 CANDLE syndrome Chronic atypical neutrophilic dermatitis with lipodystrophy Tags
Red List (low evidence)	PTBP1	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	PTCD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Cardiomyopathy Tags
Red List (low evidence)	PTCH2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Basal cell carcinoma, somatic 605462 Basal cell nevus syndrome, 109400 Medulloblastoma, somatic Tags
Red List (low evidence)	PTGDR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Asthma, susceptibility to, 1} 607277 Tags
Red List (low evidence)	PTPN22	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PTPRR	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PUS10	2 reviews 1 green	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PYROXD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags disputed
Red List (low evidence)	RAB35	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes familial hypercholesterolemia MONDO:0005439 neurodevelopmental disorder MONDO:0700092 Tags
Red List (low evidence)	RABL2A	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes male infertility ciliopathy Tags
Red List (low evidence)	RACGAP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789 Tags
Red List (low evidence)	RAD51D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Breast-ovarian cancer, familial, susceptibility to, 4} 614291 Tags
Red List (low evidence)	RANBP17	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	RCC1L	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	RDH14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RDH14-related Tags
Red List (low evidence)	REPS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodegeneration with brain iron accumulation 7 , MIM# 617916 Tags
Red List (low evidence)	RFC2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	RGR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 44, MIM# 613769 Tags disputed
Red List (low evidence)	RGS10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Immunodeficiency short stature Tags
Red List (low evidence)	RGS6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RGS6-related Tags
Red List (low evidence)	RIC3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	RING1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes microcephaly intellectual disability Tags
Red List (low evidence)	RNF135	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	RNF139	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Renal cell carcinoma MIM#144700 Tags
Red List (low evidence)	RNF212	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Recombination rate QTL 1, MIM#612042 Spermatogenic failure 62, MIM# 619673 Tags
Red List (low evidence)	RNF6	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	RP9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 9 MIM#180104 Tags
Red List (low evidence)	RPL27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 16, MIM# 617408 Tags
Red List (low evidence)	RPL35	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 19, MIM# 618312 Tags
Red List (low evidence)	RPS15	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related Tags
Red List (low evidence)	RPS15A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 20, MIM# 618313 Tags
Red List (low evidence)	RPS27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 17, MIM# 617409 Tags
Red List (low evidence)	RXFP2	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cryptorchidism Tags
Red List (low evidence)	SALL3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SCD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Adrenoleukodystrophy Tags
Red List (low evidence)	SCD5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 79, MIM#619086 Tags
Red List (low evidence)	SCN7A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Holoprosencephaly Tags
Red List (low evidence)	SCRIB	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SELP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SEMA3D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hand and foot malformations Hirschsprung disease Tags
Red List (low evidence)	SERPINA11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes pericardial effusion pleural effusion Tags
Red List (low evidence)	SEZ6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related Tags
Red List (low evidence)	SFTPD	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Interstitial lung disease Tags
Red List (low evidence)	SGK3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hypophosphatemic rickets Tags
Red List (low evidence)	SGO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Perrault syndrome Tags
Red List (low evidence)	SHOX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Sinus Node Dysfunction Atrial Fibrillation Tags
Red List (low evidence)	SIAE	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SIRT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autoimmune disease, MONDO:0007179 Tags
Red List (low evidence)	SIX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Red List (low evidence)	SLC10A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bile acid malabsorption, primary, MIM# 613291 Tags
Red List (low evidence)	SLC11A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Buruli ulcer, susceptibility to}, MIM#610446 {Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948 Tags
Red List (low evidence)	SLC14A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Blood group, Kidd], MIM#111000 Tags
Red List (low evidence)	SLC15A4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC17A3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671 Tags
Red List (low evidence)	SLC22A4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes susceptibility to rheumatoid arthritis MIM#180300 Tags
Red List (low evidence)	SLC26A1	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephrolithiasis, calcium oxalate, MIM#167030 Tags disputed
Red List (low evidence)	SLC26A6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Primary hyperoxaluria, MONDO:0002474, SLC26A6-related Tags
Red List (low evidence)	SLC27A5	2 reviews 2 red	Unknown	Sources Expert Review Red Literature Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC2A3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC2A4	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC2A4RG	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC2A8	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC30A8	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853 Tags
Red List (low evidence)	SLC39A12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, SLC39A12-related Tags
Red List (low evidence)	SLC3A2	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Autism Tags
Red List (low evidence)	SLC41A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephronophthisis-like nephropathy 2, MIM# 619468 Tags
Red List (low evidence)	SLC51A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cholestasis, progressive familial intrahepatic, 6, MIM# 619484 Tags
Red List (low evidence)	SLC51B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Bile acid malabsorption, primary, 2, MIM# 619481 Congenital diarrhoea Cholestasis Tags
Red List (low evidence)	SLC6A2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Orthostatic intolerance, MIM# 604715 Tags
Red List (low evidence)	SLC6A20	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hyperglycinuria, MIM# 138500 Tags
Red List (low evidence)	SLC6A4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Obsessive-compulsive disorder}, MIM# 164230 depression alcohol dependence Tags
Red List (low evidence)	SLC7A14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 68, MIM# MIM#615725 Tags disputed
Red List (low evidence)	SLC7A5	1 review 1 red	Unknown	Sources Expert Review Red Other Phenotypes Large neutral amino acid transporter deficiency (MIM#600182) Tags
Red List (low evidence)	SLC7A6OS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epilepsy, progressive myoclonic, 12, MIM# 619191 Tags
Red List (low evidence)	SLC9A3R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 Tags refuted
Red List (low evidence)	SLC9A9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Autism susceptibility 16, MIM# 613410 Tags
Red List (low evidence)	SLIRP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial encephalomyopathy with complex I and IV deficiency Tags
Red List (low evidence)	SLITRK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Tourette syndrome, MIM# 137580 Tags disputed
Red List (low evidence)	SMAD1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Pulmonary arterial hypertension Tags disputed
Red List (low evidence)	SMAD7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Colorectal cancer, susceptibility to, 3} 612229 Tags
Red List (low evidence)	SMARCA1	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Intellectual disability Tags
Red List (low evidence)	SMIM1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Blood group, Vel system MIM#615264 Tags
Red List (low evidence)	SMPDL3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sensory Neuropathy Tags
Red List (low evidence)	SNX3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SOBP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 Tags
Red List (low evidence)	SOD2	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Microvascular complications of diabetes 6} 612634 Lethal neonatal dilated cardiomyopathy Tags
Red List (low evidence)	SOHLH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Premature ovarian failure Tags
Red List (low evidence)	SORT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Low density lipoprotein cholesterol level QTL6] 613589 Tags
Red List (low evidence)	SOX8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red List (low evidence)	SPAG17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spermatogenic failure 55, MIM#619380 Tags
Red List (low evidence)	SPAG7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome, MONDO:0018540 Tags
Red List (low evidence)	SPARCL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Corneal dystrophy, MONDO:0018102 Tags
Red List (low evidence)	SPTBN5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related Sacral agenesis congenital anomalies Tags
Red List (low evidence)	SRPX2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643 Tags
Red List (low evidence)	STEAP3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Anaemia, hypochromic microcytic, with iron overload 2, MIM# 615234 Tags
Red List (low evidence)	STK33	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spermatogenic failure 93, MIM#620849 Tags
Red List (low evidence)	STK36	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 46, MIM# 619436 Tags
Red List (low evidence)	STOX1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Preeclampsia/eclampsia 4 (MIM#609404) Tags
Red List (low evidence)	STT3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ix 615597 Tags
Red List (low evidence)	STX2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SUMO1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cleft lip and palate Tags
Red List (low evidence)	SUMO4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Diabetes mellitus, insulin-dependent, 5} 600320 Tags
Red List (low evidence)	SUPT7L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lipodystrophy, MONDO:0006573, SUPT7L-related Tags
Red List (low evidence)	SV2B	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes seizures Tags
Red List (low evidence)	SYN3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SYNE2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999 Tags disputed
Red List (low evidence)	SYT14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 Tags
Red List (low evidence)	T	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sacral agenesis with vertebral anomalies, MIM# 615709 Tags
Red List (low evidence)	TAF11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes cleft lip MONDO:0004747 Tags
Red List (low evidence)	TAS2R16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956 Tags
Red List (low evidence)	TAS2R38	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Phenylthiocarbamide tasting] 171200 Tags
Red List (low evidence)	TBC1D31	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital anomaly of kidney and urinary tract MONDO:0019719 Tags
Red List (low evidence)	TBL1Y	2 reviews 2 red	Other	Sources Expert Review Red Literature Phenotypes Deafness, Y-linked 2, MIM# 400047 Tags
Red List (low evidence)	TCF21	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TCF7L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital hypopituitarism Tags
Red List (low evidence)	TCHH	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Uncombable hair syndrome 3 MIM#617252 Tags
Red List (low evidence)	TDGF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Forebrain abnormalities Tags
Red List (low evidence)	TDO2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes Hypertryptophanemia MIM#600627 Disorders of histidine, tryptophan or lysine metabolism Tags
Red List (low evidence)	TECR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive, MIM#614020 Tags
Red List (low evidence)	TENM1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TGM6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 35, MIM# 613908 Tags refuted
Red List (low evidence)	THAP11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Methylmalonic aciduria, cblC type-like, MIM# 620940 Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related Tags
Red List (low evidence)	TIMM44	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TIRAP	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TLR1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223 Tags
Red List (low evidence)	TLR2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TLR4	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Inflammatory bowel disease MONDO:0005265 Tags
Red List (low evidence)	TLR5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TMLHE	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Autism, susceptibility to, X-linked 6}, MIM#300872 Tags
Red List (low evidence)	TMPO	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TMPRSS9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes autism spectrum disorder Tags
Red List (low evidence)	TNF	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TNFRSF10B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Squamous cell carcinoma, head and neck MIM#275355 Tags
Red List (low evidence)	TNFRSF21	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Other Phenotypes high myopia Tags
Red List (low evidence)	TNFRSF4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Immunodeficiency 16, MIM# 615593 Tags
Red List (low evidence)	TNFSF12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Recurrent infections, poor antibody responses, decreased immunoglobulins Tags
Red List (low evidence)	TNFSF13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related Tags
Red List (low evidence)	TNFSF4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Myocardial infarction, susceptibility to} 608446 Tags
Red List (low evidence)	TNFSF9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Tags
Red List (low evidence)	TNRC6A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes ?Epilepsy, familial adult myoclonic, 6 MIM#618074 Tags
Red List (low evidence)	TOGARAM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related Tags
Red List (low evidence)	TOM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 85 and autoimmunity, MIM# 619510 Tags
Red List (low evidence)	TPCN2	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267 Tags
Red List (low evidence)	TPH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 Tags
Red List (low evidence)	TPMT	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Thiopurines, poor metabolism of, 1} 610460 Tags
Red List (low evidence)	TPR	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red List (low evidence)	TPTE2P5	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TRIM24	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TRIM27	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes parkinson's disease Tags
Red List (low evidence)	TRIM33	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TRIM47	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Genetic cerebral small vessel disease MONDO:0018787 Tags
Red List (low evidence)	TRIM69	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Susceptibility to herpes simplex encephalitis Tags
Red List (low evidence)	TRPV5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes TRPV5-related hypercalciuria (MONDO:0009550) Tags
Red List (low evidence)	TSEN34	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2C, MIM# 612390 Tags
Red List (low evidence)	TSR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes idiopathic spontaneous coronary artery dissection MONDO:0007385 Tags
Red List (low evidence)	TSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Tags
Red List (low evidence)	TTF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes congenital hypothyroidism, thyroid dysgenesis, No OMIM # Tags
Red List (low evidence)	TTLL10	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	UBE2U	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Retinoschisis cataracts learning disabilities developmental delay Tags
Red List (low evidence)	UCP3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Obesity, severe, and type II diabetes}, MIM#601665 Tags
Red List (low evidence)	UGGT1	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	UGT1A4	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	UGT2B17	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	UHRF1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Multi locus imprinting disturbance in offspring chromosome instability Tags
Red List (low evidence)	UNC13B	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Epilepsy Tags
Red List (low evidence)	UPK3A	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Red List (low evidence)	USF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	USP33	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Renal hypertension MONDO:0001105 Tags
Red List (low evidence)	UTP4	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes North American Indian childhood cirrhosis Tags refuted
Red List (low evidence)	UTS2B	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	VANGL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Caudal regression syndrome, MIM# 600145 {Neural tube defects, susceptibility to} 182940 Tags
Red List (low evidence)	VANGL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neural tube defects, MIM# 182940 Tags
Red List (low evidence)	VAV1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Common variable immnodeficiency Tags
Red List (low evidence)	VAX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 11, MIM# 614402 Tags
Red List (low evidence)	VEGFA	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Microvascular complications of diabetes 1} 603933 Tags
Red List (low evidence)	VTN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atypical haemolytic uraemic syndrome Tags
Red List (low evidence)	VWA3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 22 MIM#616948 Tags
Red List (low evidence)	WASHC3	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder MONDO:0700092, WASHC3 related Tags
Red List (low evidence)	WASL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Parkinson's disease, MONDO:0005180, WASL-related Tags
Red List (low evidence)	WDR36	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Glaucoma 1, open angle, G, MIM# 609887 Tags disputed
Red List (low evidence)	WNT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Tetra-amelia syndrome 1, MIM# 273395 Tags
Red List (low evidence)	XBP1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	XG	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	XPO5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome Tags
Red List (low evidence)	XRCC3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	YEATS2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes ?Epilepsy, myoclonic, familial adult, 4 MIM#615127 Tags STR
Red List (low evidence)	YWHAZ	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	ZAR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Multi locus imprinting disturbance in offspring Tags
Red List (low evidence)	ZDHHC15	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Intellectual disability, X-linked 91, 300577 Tags disputed
Red List (low evidence)	ZFP36L1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Oocyte maturation defect 13, MIM# 620154 Tags
Red List (low evidence)	ZFP42	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ZFYVE27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 33, autosomal dominant MIM#610244 Tags
Red List (low evidence)	ZIC4	3 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ZNF141	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly, postaxial, type A6, MIM# 615226 Tags
Red List (low evidence)	ZNF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hydrocephalus cleft palate microphthalmia Tags
Red List (low evidence)	ZNF365	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	ZNF41	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Red Phenotypes non-syndromic X-linked intellectual disability MONDO:0019181 Tags disputed
Red List (low evidence)	ZNF445	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Temple syndrome Multi locus imprinting disturbance (MLID) Tags
Red List (low evidence)	ZNF592	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 Tags
Red List (low evidence)	ZNF750	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227 Tags
Red List (low evidence)	ZNF81	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Intellectual disability Tags
Red List (low evidence)	ZNF862	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes hereditary gingival fibromatosis MONDO:0016070 , ZNF862 -related Tags
Red List (low evidence)	ZPR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321 Tags founder
No list	DMPK	1 review	Unknown	Sources Expert Review Removed Victorian Clinical Genetics Services Tags STR
No list	GIPC1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940 Tags 5'UTR STR
No list	NOP56	1 review	Unknown	Sources Expert Review Removed Victorian Clinical Genetics Services Tags STR
No list	NOTCH2NL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE NIID Tags STR
No list	RAPGEF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 Tags STR
No list	SAMD12	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Literature Phenotypes Epilepsy, familial adult myoclonic, 1 601068 Tags deep intronic STR
No list	STARD7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Epilepsy, familial adult myoclonic, 2, 607876 Tags STR
No list	TBP	1 review 1 green	Unknown	Sources Expert list Expert Review Removed Victorian Clinical Genetics Services Tags STR

Major version comments

2022-05-20 06:58 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Mendeliome (Version 1.2302)

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