Progressive Neurological Conditions (Version 19.48)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 4114 Entitiess
Green List (high evidence)	AAAS Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Glucocorticoid deficiency with achalasia Achalasia-addisonianism-alacrimia syndrome, MIM# 231550 Tags
Green List (high evidence)	AAAS Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Triple A syndrome, 231550 Achalasia-addisonianism-alacrimia syndrome, 231550 Tags
Green List (high evidence)	AAAS Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550 Tags
Green List (high evidence)	AARS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy, early infantile, 29, MIM#616339 Tags
Green List (high evidence)	AARS Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Tags
Green List (high evidence)	AARS Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, axonal, type 2N, 613287 HMSN, dHMN/dSMA Tags
Green List (high evidence)	AARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Leukoencephalopathy, progressive, with ovarian failure MIM#615889 MONDO:0013570 Tags
Green List (high evidence)	AARS2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 Tags
Green List (high evidence)	AARS2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Tags
Green List (high evidence)	ABAT Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes mtDNA depletion syndrome (MDS) Tags
Green List (high evidence)	ABAT Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM# 613163 Tags
Green List (high evidence)	ABAT Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes GABA-transaminase deficiency, MIM#613163 Tags
Green List (high evidence)	ABCA1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Tangier Disease (MONDO:0008783 MIM#205400) Tags
Green List (high evidence)	ABCA2 Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Literature Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Tags
Green List (high evidence)	ABCB11 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 2 MIM#601847 disorder of bile acid metabolism Tags
Green List (high evidence)	ABCB4 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 disorder of bile acid metabolism Tags
Green List (high evidence)	ABCB7 Ataxia - paediatric v1.30	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 Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, with ataxia Sideroblastic Anemia and Ataxia Anemia, sideroblast with ataxia, 300135 Tags
Green List (high evidence)	ABCB7 Metal Metabolism Disorders v0.45	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 301310 Anemia, sideroblastic, with ataxia Tags
Green List (high evidence)	ABCB7 Mitochondrial disease v0.969	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green List (high evidence)	ABCD1 Peroxisomal Disorders v0.54	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes adrenoleukodystrophy (MONDO:0018544) Tags
Green List (high evidence)	ABCD1 Ataxia - adult onset v1.18	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 Expert list Royal Melbourne Hospital Phenotypes Adrenoleukodystrophy Tags
Green List (high evidence)	ABCD1 Hereditary Neuropathy - complex v1.19	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 Royal Melbourne Hospital Phenotypes Adrenomyeloneuropathy, adult (MIM#300100) Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance Tags
Green List (high evidence)	ABCD1 Hereditary Spastic Paraplegia - adult onset v1.11	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 Expert list Royal Melbourne Hospital Phenotypes spastic paraparesis Hereditary spastic paraplegia Adrenoleukodystrophy, 300100 VLCFA accumulation adrenal failure Tags
Green List (high evidence)	ABCD1 Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 Tags
Green List (high evidence)	ABCD1 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags
Green List (high evidence)	ABCD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags
Green List (high evidence)	ABHD12 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Green List (high evidence)	ABHD12 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia Neurodegeneration, childhood-onset, with cerebellar atrophy,612674 HMSN Tags
Green List (high evidence)	ABHD12 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 disorder of of endocannabinoid metabolism Tags
Green List (high evidence)	ABHD12 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Tags
Green List (high evidence)	ABHD16A Leukodystrophy - paediatric v0.318	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)	ABHD16A Hereditary Spastic Paraplegia - paediatric v1.86	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 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Chanarin-Dorfman syndrome MIM#275630 neutral lipid storage disease with ichthyosis lipid metabolism Tags
Green List (high evidence)	ABHD5 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dorfman-Chanarin disease MONDO:0010155 Tags
Green List (high evidence)	ACAD9 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags treatable
Green List (high evidence)	ACAD9 Fatty Acid Oxidation Defects v1.14	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)	ACAD9 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Tags treatable
Green List (high evidence)	ACADM Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Tags treatable
Green List (high evidence)	ACADM Fatty Acid Oxidation Defects v1.14	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)	ACADM Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Rhabdomyolysis Tags treatable
Green List (high evidence)	ACADSB Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 2-methylbutyrylglycinuria MIM#610006 Tags
Green List (high evidence)	ACADSB Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Phenotypes 2-methylbutyrylglycinuria MIM#610006 Tags
Green List (high evidence)	ACADVL Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes VLCAD deficiency MIM#201475 Tags treatable
Green List (high evidence)	ACADVL Fatty Acid Oxidation Defects v1.14	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)	ACADVL Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes VLCAD deficiency 201475 Tags treatable
Green List (high evidence)	ACAT1 Fatty Acid Oxidation Defects v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Alpha-methylacetoacetic aciduria, MIM#203750 Deficiency of acetyl-CoA acetyltransferase Beta-ketothiolase deficiency MONDO:0008760 Tags treatable
Green List (high evidence)	ACAT1 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Alpha-methylacetoacetic aciduria MIM#203750 Tags treatable
Green List (high evidence)	ACBD5 Peroxisomal Disorders v0.54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinal dystrophy with leukodystrophy (MIM#618863) Tags
Green List (high evidence)	ACBD5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Progressive leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Green List (high evidence)	ACBD6 Ataxia - paediatric v1.30	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)	ACBD6 Dystonia - complex v0.272	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)	ACER3 Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags
Green List (high evidence)	ACO2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green List (high evidence)	ACO2 Mitochondrial disease v0.969	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 Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Optic atrophy 9, MIM# 616289 Tags
Green List (high evidence)	ACOX1 Peroxisomal Disorders v0.54	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Tags
Green List (high evidence)	ACOX1 Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green List (high evidence)	ACOX1 Leukodystrophy - paediatric v0.318	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green List (high evidence)	ACOX1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mitchell syndrome, MIM# 618960 Tags
Green List (high evidence)	ACOX2 Peroxisomal Disorders v0.54	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Bile acid synthesis defect, congenital, 6, 617308 Tags
Green List (high evidence)	ACP5 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 Tags
Green List (high evidence)	ACTA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, scapulohumeroperoneal 616852 Tags
Green List (high evidence)	ACTA2 Cerebral vascular malformations v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Multisystemic smooth muscle dysfunction syndrome,613834 Aortic aneurysm familial thoracic 6,611788 Moyamoya Disease Moyamoya disease 5 Moyamoya disease 5,614042 Tags
Green List (high evidence)	ACTA2 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Tags
Green List (high evidence)	ACTA2 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Tags
Green List (high evidence)	ACTB Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Tags
Green List (high evidence)	ACTB Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Baraitser-Winter syndrome 1, 243310 Dystonia, juvenile-onset, 607371 Tags
Green List (high evidence)	ACTG1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert Review Phenotypes Baraitser-Winter syndrome 2, MIM# 614583 Tags
Green List (high evidence)	ACTL6B Genetic Epilepsy v1.108	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)	ACTN2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 6, adult onset MIM#618655 Tags
Green List (high evidence)	ACVR1 Brain Calcification v1.99	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Tags
Green List (high evidence)	ACVRL1 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 600376 Tags
Green List (high evidence)	ACY1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Aminoacylase 1 deficiency MIM#609924 disorder of amino acid metabolism Tags
Green List (high evidence)	ACY1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aminoacylase 1 deficiency, MIM# 609924 Tags
Green List (high evidence)	ADA Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Adenosine deaminase deficiency, partial MIM#102700 Severe combined immunodeficiency due to ADA deficiency MIM#102700 disorder of purine metabolism Tags
Green List (high evidence)	ADAM22 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 61 (MIM#617933) Tags
Green List (high evidence)	ADAR Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 6, 615010 autosomal recessive Tags
Green List (high evidence)	ADAR Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dystonia Aicardi-Goutieres syndrome 6, 615010 Tags
Green List (high evidence)	ADAR Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Dyschromatosis symmetrica hereditaria, MIM# 127400 Tags
Green List (high evidence)	ADAR Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, 615010 Tags
Green List (high evidence)	ADAR Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green List (high evidence)	ADAR Brain Calcification v1.99	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 6, MIM#615010 Tags
Green List (high evidence)	ADAR Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 6 neuroinflammatory disorder with cerebral calcification progressive loss of cognition spasticity dystonia parkinsonism OMIM 615010 Tags
Green List (high evidence)	ADARB1 Genetic Epilepsy v1.108	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)	ADCY5 Brain Channelopathies v1.3	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)	ADCY5 Dystonia - isolated/combined v1.37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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)	ADGRG1 Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Polymicrogyria, Frontoparietal, 606854 Polymicrogyria, perisylvian type, 615752 Tags
Green List (high evidence)	ADGRG1 Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags 5'UTR
Green List (high evidence)	ADNP Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Helsmoortel-van der Aa syndrome MIM#615873 Tags
Green List (high evidence)	ADPRHL2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green List (high evidence)	ADPRHL2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 Tags new gene name
Green List (high evidence)	ADPRHL2 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green List (high evidence)	ADSL Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Adenylosuccinase deficiency MIM#103050 Tags
Green List (high evidence)	ADSL Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Adenylosuccinase deficiency MIM#103050 disorder of purine metabolism Tags
Green List (high evidence)	ADSSL1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Tags
Green List (high evidence)	AFF3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes KINSSHIP syndrome, MIM# 619297 Intellectual disability seizures hypertrichosis Tags
Green List (high evidence)	AFG3L2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487 Spinocerebellar ataxia 28, MIM# 610246 Tags
Green List (high evidence)	AFG3L2 Ataxia - adult onset v1.18	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia, spastic, 5, autosomal recessive spastic ataxia 5, 614487 Spinocerebellar ataxia 28 Spinocerebellar ataxia 28, 610246 Spinocerebellar Ataxia, Dominant Tags
Green List (high evidence)	AFG3L2 Mitochondrial disease v0.969	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	AFG3L2 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Green List (high evidence)	AFG3L2 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776 Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia Tags
Green List (high evidence)	AGA Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 Tags
Green List (high evidence)	AGA Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aspartylglucosaminuria, MIM# 208400 Tags
Green List (high evidence)	AGK Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Sengers Syndrome (MIM#212350 MONDO:0008922) Tags
Green List (high evidence)	AGK Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	AGL Glycogen Storage Diseases v1.2	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)	AGL Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green List (high evidence)	AGMO Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, AGMO-related Tags
Green List (high evidence)	AGO1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Tags
Green List (high evidence)	AGPS Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	AGTPBP1 Hereditary Neuropathy - complex v1.19	1 review 1 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)	AGTPBP1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review 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)	AGXT Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	AGXT Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperoxaluria, primary, type 1, MIM#259900 Tags clinical trial treatable
Green List (high evidence)	AHCY Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 disorder of methionine metabolism Tags treatable
Green List (high evidence)	AHCY Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Expert list Victorian Clinical Genetics Services Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Tags
Green List (high evidence)	AHI1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3 Tags
Green List (high evidence)	AIFM1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	AIFM1 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Tags
Green List (high evidence)	AIFM1 Hereditary Neuropathy - complex v1.19	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 6 Cowchock syndrome HMSN Tags
Green List (high evidence)	AIFM1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816) Encephalamyopathy, Mitochondrial, X-Linked Tags
Green List (high evidence)	AIMP1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 3 260600 Tags
Green List (high evidence)	AIMP1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leukodystrophy, hypomyelinating, 3, MIM# 260600 Tags
Green List (high evidence)	AIMP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 3, MIM#260600 Tags
Green List (high evidence)	AJAP1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, AJAP1-related Tags
Green List (high evidence)	AKR1D1 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 2 MIM#235555 disorder of bile acid metabolism Tags treatable
Green List (high evidence)	AKT1 Genetic Epilepsy v1.108	3 reviews 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Proteus syndrome, somatic, MIM# 176920 Tags somatic
Green List (high evidence)	AKT3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937 Tags
Green List (high evidence)	ALAS2 Metal Metabolism Disorders v0.45	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 300752 Protoporphyria, erythropoietic, X-linked Sideroblastic anaemia - increased serum ferritin 300751 Anemia, sideroblastic, 1 Tags
Green List (high evidence)	ALDH18A1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162 Tags
Green List (high evidence)	ALDH18A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162 Tags
Green List (high evidence)	ALDH18A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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)	ALDH18A1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities Tags
Green List (high evidence)	ALDH3A2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sjogren-Larsson syndrome, MIM# 270200 Tags
Green List (high evidence)	ALDH3A2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sjögren-Larsson syndrome Tags
Green List (high evidence)	ALDH3A2 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Sjogren-Larsson syndrome MIM#270200 disorder of lipid metabolism Tags
Green List (high evidence)	ALDH3A2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sjogren-Larsson syndrome, 270200 Tags
Green List (high evidence)	ALDH3A2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Sjogren-Larsson syndrome, MIM# 270200 Tags
Green List (high evidence)	ALDH4A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperprolinemia, type II MIM#239510 disorders of ornithine or proline metabolism Tags
Green List (high evidence)	ALDH5A1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green List (high evidence)	ALDH5A1 Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green List (high evidence)	ALDH5A1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green List (high evidence)	ALDH5A1 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency MIM#271980 disorder of neurotransmitter metabolism Tags
Green List (high evidence)	ALDH6A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105 disorder of valine and pyrimidine metabolism Tags
Green List (high evidence)	ALDH7A1 Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green List (high evidence)	ALDH7A1 Genetic Epilepsy v1.108	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green List (high evidence)	ALDH7A1 Miscellaneous Metabolic Disorders v1.48	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, pyridoxine-dependent MM#266100 disorder of lysine metabolism Tags treatable
Green List (high evidence)	ALDOA Glycogen Storage Diseases v1.2	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)	ALDOA Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XII 611881 Tags
Green List (high evidence)	ALDOB Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags
Green List (high evidence)	ALG1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ik 608540 Tags
Green List (high evidence)	ALG1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green List (high evidence)	ALG11 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green List (high evidence)	ALG11 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ig 607143 Tags
Green List (high evidence)	ALG13 Congenital Disorders of Glycosylation v1.58	3 reviews 2 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 Is (MIM# 300884) Tags
Green List (high evidence)	ALG13 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green List (high evidence)	ALG14 Congenital Disorders of Glycosylation v1.58	2 reviews 2 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)	ALG14 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Tags
Green List (high evidence)	ALG3 Congenital Disorders of Glycosylation v1.58	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)	ALG3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green List (high evidence)	ALG6 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green List (high evidence)	ALG6 Congenital Disorders of Glycosylation v1.58	2 reviews 2 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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green List (high evidence)	ALG8 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green List (high evidence)	ALG9 Congenital Disorders of Glycosylation v1.58	1 review 1 green	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 Tags
Green List (high evidence)	ALG9 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Tags
Green List (high evidence)	ALKBH8 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder, autosomal recessive 71, MIM# 618504 Tags
Green List (high evidence)	ALPL Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypophosphatasia disorder of bone metabolism Tags
Green List (high evidence)	ALPL Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags
Green List (high evidence)	ALS2 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100 MONDO: MONDO:0008780) Tags
Green List (high evidence)	ALS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paralysis, infantile onset ascending, MIM# 607225 Tags
Green List (high evidence)	AMACR Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	AMACR Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alpha-methylacyl-CoA racemase deficiency (MIM#614307) Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids Tags
Green List (high evidence)	AMACR Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green List (high evidence)	AMACR Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green List (high evidence)	AMFR Hereditary Spastic Paraplegia - paediatric v1.86	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)	AMPD2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green List (high evidence)	AMT Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green List (high evidence)	AMT Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green List (high evidence)	ANGPTL6 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cerebral aneurysm Tags
Green List (high evidence)	ANK2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related Tags
Green List (high evidence)	ANKRD11 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes KBG syndrome, MIM#148050 Tags
Green List (high evidence)	ANKRD17 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Chopra-Amiel-Gordan syndrome, MIM# 619504 Intellectual disability dysmorphic features Tags
Green List (high evidence)	ANO10 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 Tags
Green List (high evidence)	ANO10 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 Spinocerebellar ataxia, autosomal recessive 10 Tags
Green List (high evidence)	ANO3 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 24, 615034 familial form of cranio-cervical dystonia Tags
Green List (high evidence)	ANO4 Genetic Epilepsy v1.108	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 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307 Tags
Green List (high evidence)	ANO5 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Green List (high evidence)	ANXA11 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Amytrophic lateral sclerosis 23 MIM#617839 Tags
Green List (high evidence)	ANXA11 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes amyotrophic lateral sclerosis type 23 MONDO:0027694 Tags
Green List (high evidence)	AP1G1 Genetic Epilepsy v1.108	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 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes MEDNIK Syndrome (MONDO:0012251, MIM#609313) Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma Tags
Green List (high evidence)	AP1S1 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEDNIK syndrome MONDO:0012251 Disorders of copper metabolism Tags
Green List (high evidence)	AP1S2 Ataxia - paediatric v1.30	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green List (high evidence)	AP1S2 Brain Calcification v1.99	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green List (high evidence)	AP2M1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder 60 with seizures, MIM# 618587 Tags
Green List (high evidence)	AP3B2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Tags
Green List (high evidence)	AP4B1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green List (high evidence)	AP4B1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 47, autosomal recessive MIM#614066 Tags
Green List (high evidence)	AP4B1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 Tags
Green List (high evidence)	AP4E1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 51, autosomal recessive, 613744 Tags
Green List (high evidence)	AP4M1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 Tags
Green List (high evidence)	AP4S1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes developmental delay Spastic paraplegia 52, autosomal recessive, 614067 seizures Tags
Green List (high evidence)	AP5Z1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 MONDO:0013342 Tags
Green List (high evidence)	AP5Z1 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia MONDO:0019064 Tags
Green List (high evidence)	APC2 Genetic Epilepsy v1.108	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)	APOA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Amyloidosis, 3 or more types 105200 Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy Tags
Green List (high evidence)	APOPT1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, MIM# 220110 Tags
Green List (high evidence)	APOPT1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Green List (high evidence)	APP Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease MONDO:0007088 Tags
Green List (high evidence)	APP Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green List (high evidence)	APTX Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920) Tags
Green List (high evidence)	APTX Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Tags
Green List (high evidence)	APTX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia-oculomotor apraxia type 1 Dystonia Tags
Green List (high evidence)	APTX Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Tags
Green List (high evidence)	ARF1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Periventricular nodular heterotopia 8, MIM# 618185 Tags
Green List (high evidence)	ARF3 Genetic Epilepsy v1.108	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), ARF3-related Global developmental delay Intellectual disability Seizures Morphological abnormality of the central nervous system Tags
Green List (high evidence)	ARFGEF1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Tags
Green List (high evidence)	ARFGEF2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Periventricular heterotopia with microcephaly (MIM#608097) Tags
Green List (high evidence)	ARFGEF3 Dystonia - isolated/combined v1.37	1 review 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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Argininemia, 207800 Tags treatable
Green List (high evidence)	ARG1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Progressive spastic tetraplegia Argininaemia, 207800 Tags treatable
Green List (high evidence)	ARG1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Argininemia MIM#207800 Urea cycle disorders and inherited hyperammonaemias disorder of arginine metabolism Tags treatable
Green List (high evidence)	ARHGEF9 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 8, MIM# 300607 Tags
Green List (high evidence)	ARID1A Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Coffin-Siris syndrome 2 #614607 Tags
Green List (high evidence)	ARID1B Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Coffin-Siris syndrome 1 MIM#135900 Tags
Green List (high evidence)	ARL13B Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green List (high evidence)	ARL6IP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy Tags
Green List (high evidence)	ARL6IP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 61, autosomal recessive, MIM#615685 Tags
Green List (high evidence)	ARSA Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic Leukodystrophy, 250100 Metachromatic leukodystrophy (#250100) Tags clinical trial treatable
Green List (high evidence)	ARSA Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metachromatic leukodystrophy, MIM# 250100 MONDO:0009591 Tags clinical trial treatable
Green List (high evidence)	ARSA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy, MIM# 250100 Severe late infantile form with mental retardation and severe course. Regression before 30 months adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy Tags
Green List (high evidence)	ARSA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy, 250100 Tags clinical trial treatable
Green List (high evidence)	ARSA Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Metachromatic leukodystrophy, MIM# 250100, adult-onset Tags
Green List (high evidence)	ARSA Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metachromatic leukodystrophy, MIM#250100 Tags clinical trial treatable
Green List (high evidence)	ARSA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags clinical trial treatable
Green List (high evidence)	ARSA Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Metachromatic leukodystrophy - # 250100 Arylsulfatase A deficiency Tags
Green List (high evidence)	ARSB Lysosomal Storage Disorder v1.13	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 Peroxisomal Disorders v0.54	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Chondrodysplasia punctata, X-linked recessive (MIM#302950) Tags new gene name
Green List (high evidence)	ARSK Lysosomal Storage Disorder v1.13	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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 38, MIM# 617020 Tags
Green List (high evidence)	ARX Dystonia - complex v0.272	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 Royal Melbourne Hospital Phenotypes Partington syndrome, MIM# 309510 Dystonia Tags
Green List (high evidence)	ARX Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship 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 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Farber lipogranulomatosis, MIM# 228000 Tags
Green List (high evidence)	ASAH1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Green List (high evidence)	ASAH1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy dHMN/dSMA Tags
Green List (high evidence)	ASCC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with congenital bone fractures 2 Tags
Green List (high evidence)	ASCC1 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807 MIM#616867) Tags
Green List (high evidence)	ASH1L Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 52, MIM#617796 Tags
Green List (high evidence)	ASL Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Phenotypes Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green List (high evidence)	ASNS Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Expert list Victorian Clinical Genetics Services Phenotypes Asparagine synthetase deficiency, MIM#615574 microcephaly cerebral atrophy drug-resistant epilepsy axial hypotonia progressive appendicular spasticity abnormal myelination Tags
Green List (high evidence)	ASPA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Canavan disease, MIM# 271900 Tags
Green List (high evidence)	ASPA Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green List (high evidence)	ASPA Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green List (high evidence)	ASPA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Canavan disease, MIM# 271900 Tags
Green List (high evidence)	ASPM Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Literature Expert Review Phenotypes Primary autosomal recessive Microcephaly 5 - OMIM #608716 Tags
Green List (high evidence)	ASS1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Citrullinemia MIM#215700 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green List (high evidence)	ASTN1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual disability epilepsy structural brain malformations Tags
Green List (high evidence)	ASXL3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature ClinGen NHS GMS Phenotypes Bainbridge-Ropers syndrome, OMIM:615115 Tags
Green List (high evidence)	ATAD1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperekplexia 4, MIM#618011 Tags
Green List (high evidence)	ATAD3A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Harel-Yoon syndrome, MIM# 617183 Tags
Green List (high evidence)	ATAD3A Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy Tags
Green List (high evidence)	ATAD3A Mitochondrial disease v0.969	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Tags SV/CNV
Green List (high evidence)	ATCAY Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, cerebellar, Cayman type, MIM# 601238 MONDO:0011025 Tags
Green List (high evidence)	ATG7 Ataxia - paediatric v1.30	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 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes AICA-ribosiduria due to ATIC deficiency MIM#608688 disorders of purine metabolism Tags
Green List (high evidence)	ATL1 Hereditary Spastic Paraplegia - paediatric v1.86	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hereditary sensory neuropathy type ID, MIM 613708 Spastic paraplegia 3A, MIM 182600 Hereditary spastic paraplegia, AR Tags
Green List (high evidence)	ATL1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory, type ID , MIM#613708 MONDO:0013381 Tags
Green List (high evidence)	ATL1 Pain syndromes v0.34	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes HSN1D Neuropathy, hereditary sensory, type ID, 613708 Hereditary spastic paraplegia, 182600 Hereditary sensory neuropathy Tags
Green List (high evidence)	ATL1 Hereditary Spastic Paraplegia - adult onset v1.11	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 3A, MIM 182600 Hereditary spastic paraplegia, AR Tags
Green List (high evidence)	ATL1 Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 3A, autosomal dominant MIM#182600 Tags
Green List (high evidence)	ATL3 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary sensory neuropathy type IF HSAN/SFN Tags
Green List (high evidence)	ATL3 Pain syndromes v0.34	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuropathy, hereditary sensory, type IF, 615632 HSN1F Tags
Green List (high evidence)	ATM Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia MIM#208900 Tags
Green List (high evidence)	ATM Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia telangiectasia Dystonia Tags
Green List (high evidence)	ATM Ataxia - adult onset v1.18	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia, 607585 Ataxia-Telangiectasia Tags
Green List (high evidence)	ATN1 Genetic Epilepsy v1.108	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Tags
Green List (high evidence)	ATP13A2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green List (high evidence)	ATP13A2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Kufor-Rakeb syndrome, MIM# 606693 Tags
Green List (high evidence)	ATP13A2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 78, autosomal recessive, 617225 Kufor-Rakeb syndrome, 606693 AR complicated hereditary spastic paraplegia Adult-onset lower-limb predominant spastic paraparesis Tags
Green List (high evidence)	ATP13A2 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes parkinsonism due to ATP13A2 deficiency MONDO:0017809 Tags
Green List (high evidence)	ATP13A2 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green List (high evidence)	ATP13A2 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 78, autosomal recessive 617225 Tags
Green List (high evidence)	ATP13A2 Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Kufor-Rakeb syndrome (OMIM 606693) Tags
Green List (high evidence)	ATP13A2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green List (high evidence)	ATP1A1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures hypomagnesaemia Tags
Green List (high evidence)	ATP1A1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036 MONDO:0054833 Tags
Green List (high evidence)	ATP1A2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 98, MIM# 619605 Tags
Green List (high evidence)	ATP1A2 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 1, MIM# 104290 Tags
Green List (high evidence)	ATP1A3 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 2, MIM# 614820 CAPOS syndrome, MIM# 601338 Dystonia-12, MIM# 128235 Tags
Green List (high evidence)	ATP1A3 Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes developmental and epileptic encephalopathy early or neonatal onset seizures, polymicrogyria Tags
Green List (high evidence)	ATP1A3 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia-12, MIM# 128235 Rapid dystonia-parkinsonism MONDO:0007496 Tags
Green List (high evidence)	ATP1A3 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes ATP1A3-associated neurological disorder MONDO:0700002 Tags
Green List (high evidence)	ATP1A3 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 2 MIM#614820 CAPOS syndrome MIM#601338 Tags
Green List (high evidence)	ATP1A3 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes CAPOS syndrome, 601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Dystonia-12, 128235 Alternating hemiplegia of childhood 2, 614820 DYSTONIA 12, 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) Tags
Green List (high evidence)	ATP2A1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brody myopathy, MIM# 601003 Tags
Green List (high evidence)	ATP2B1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Tags
Green List (high evidence)	ATP2B2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green List (high evidence)	ATP2B2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green List (high evidence)	ATP2B2 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green List (high evidence)	ATP5D Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120 Tags new gene name
Green List (high evidence)	ATP5E Mitochondrial disease v0.969	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags new gene name
Green List (high evidence)	ATP5G3 Dystonia - complex v0.272	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
Green List (high evidence)	ATP5O Mitochondrial disease v0.969	1 review 1 green	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)	ATP5O Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags new gene name
Green List (high evidence)	ATP6AP1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes immunodeficiency-47 (MIM# 300972) Tags
Green List (high evidence)	ATP6AP2 Early-onset Parkinson disease v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Parkinsonism with spasticity, X-linked, MIM# 300911 Tags
Green List (high evidence)	ATP6AP2 Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Tags
Green List (high evidence)	ATP6AP2 Congenital Disorders of Glycosylation v1.58	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIr, MIM# 301045 Tags
Green List (high evidence)	ATP6V0A1 Ataxia - paediatric v1.30	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green List (high evidence)	ATP6V0A1 Genetic Epilepsy v1.108	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green List (high evidence)	ATP6V0A2 Congenital Disorders of Glycosylation v1.58	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)	ATP6V0A2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cutis laxa, type IIA,219200 Tags
Green List (high evidence)	ATP6V0C Genetic Epilepsy v1.108	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Epileptic encephalopathy, infantile or early childhood, 618012 Cutis laxa, type IID, 617403 Tags
Green List (high evidence)	ATP6V1B2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy Intellectual Disability microcephaly, DOORS syndrome Tags
Green List (high evidence)	ATP7A Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Menkes disease, 309400 Tags treatable
Green List (high evidence)	ATP7A Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, distal, X-linked 3, MIM# 300489 dHMN/dSMA Tags
Green List (high evidence)	ATP7A Genetic Epilepsy v1.108	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Menkes disease MIM#309400 Tags treatable
Green List (high evidence)	ATP7A Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Menkes disease MIM#309400 Occipital horn syndrome MIM#304150 disorder of copper matabolism Tags
Green List (high evidence)	ATP7A Metal Metabolism Disorders v0.45	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Disorders of copper metabolism Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) Tags
Green List (high evidence)	ATP7B Brain Channelopathies v1.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilson disease, MIM# 277900 Tags
Green List (high evidence)	ATP7B Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 277900 WILSON DISEASE Tags
Green List (high evidence)	ATP7B Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Wilson disease MIM#277900 Tags
Green List (high evidence)	ATP7B Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wilson disease, MIM# 277900 Dystonia Tags
Green List (high evidence)	ATP8A2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Tags
Green List (high evidence)	ATP8B1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cholestasis, progressive familial intrahepatic 1 MIM#211600 disorder of bile acid metabolism Tags
Green List (high evidence)	ATRX Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green List (high evidence)	ATXN1_CAG STR Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar Ataxia type 1 Parkinsonism OMIM 164400 Tags
Green List (high evidence)	AUH Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Green List (high evidence)	AUH Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria, type I, MIM#250950 Tags
Green List (high evidence)	AUH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-Methylglutaconic aciduria type 1 Dystonia Tags
Green List (high evidence)	B3GALNT2 Congenital Disorders of Glycosylation v1.58	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)	B3GALNT2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181 Tags
Green List (high evidence)	B3GALT6 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peters-plus syndrome (MIM# 261540) Tags
Green List (high evidence)	B4GALNT1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 Tags
Green List (high evidence)	B4GALNT1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive MIM#609195 Tags
Green List (high evidence)	B4GALNT1 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	B4GALT7 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 Tags founder
Green List (high evidence)	BAAT Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bile acid conjugation defect 1, MIM# 619232 Hypercholanemia, familial MIM#607748 disorder of bile acid metabolism Tags
Green List (high evidence)	BAG3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 6 612954 Tags
Green List (high evidence)	BAP1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kury-Isidor syndrome , MIM#619762 Tags
Green List (high evidence)	BBS1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, 209900 Tags
Green List (high evidence)	BCAP31 Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness, dystonia and cerebellar hypomyelination, MIM#300475 Tags
Green List (high evidence)	BCAP31 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Deafness, dystonia, and cerebral hypomyelination, 300475 Tags
Green List (high evidence)	BCAS3 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green List (high evidence)	BCAS3 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green List (high evidence)	BCAS3 Neurodegeneration with brain iron accumulation v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green List (high evidence)	BCKDHA Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ia, MIM# 248600 Tags treatable
Green List (high evidence)	BCKDHB Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ib, MIM# 248600 Tags treatable
Green List (high evidence)	BCKDHB Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy Tags treatable
Green List (high evidence)	BCKDK Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923 Tags
Green List (high evidence)	BCS1L Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex III disorders Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	BCS1L Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green List (high evidence)	BCS1L Mitochondrial disease v0.969	3 reviews 3 green	Unknown	Sources Expert Review Green Expert Review Green Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	BICD2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290 MONDO:0014121 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 dHMN/dSMA Tags
Green List (high evidence)	BICD2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949 Tags
Green List (high evidence)	BMP6 Metal Metabolism Disorders v0.45	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS Genomic Medicine Service Genomics England PanelApp Phenotypes {Iron overload, susceptibility to} 620121 Tags
Green List (high evidence)	BOLA3 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299 Tags
Green List (high evidence)	BOLA3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Tags
Green List (high evidence)	BOLA3 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	BORCS8 Leukodystrophy - paediatric v0.318	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 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Tags
Green List (high evidence)	BRAF Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green List (high evidence)	BRAT1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green List (high evidence)	BRAT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green List (high evidence)	BSCL2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Silver spastic paraplegia syndrome MIM#270685 Encephalopathy, progressive, with or without lipodystrophy MIM#615924 Tags
Green List (high evidence)	BSCL2 Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Encephalopathy, progressive, with or without lipodystrophy, MIM#615924 Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062 Tags
Green List (high evidence)	BSCL2 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Silver spastic paraplegia syndrome, 270685 HSP 17, MONDO:0010043 Tags
Green List (high evidence)	BSCL2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, distal hereditary motor, type VC, MIM# 619112 Tags
Green List (high evidence)	BSCL2 Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Silver spastic paraplegia syndrome MIM#270685 Neuropathy, distal hereditary motor, type VA MIM#600794 Tags
Green List (high evidence)	BSN Genetic Epilepsy v1.108	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)	BTD Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Biotinidase deficiency, MIM 253260 Tags treatable
Green List (high evidence)	BTD Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Biotinidase deficiency MIM#253260 disorder of biotin metabolism Tags treatable
Green List (high evidence)	BVES Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Tags
Green List (high evidence)	C12orf57 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Temtamy syndrome MIM#218340 Tags
Green List (high evidence)	C12orf65 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 Combined oxidative phosphorylation deficiency 7, MIM# 613559 Tags new gene name
Green List (high evidence)	C12orf65 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 HMSN Tags new gene name
Green List (high evidence)	C12orf65 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 55, autosomal recessive, 615035 optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy Combined oxidative phosphorylation deficiency 7, 613559 Tags new gene name
Green List (high evidence)	C12orf66 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 Tags new gene name
Green List (high evidence)	C19orf12 Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Phenotypes Mitochondrial membrane protein-associated neurodegeneration (MPAN) Neurodegeneration with brain iron accumulation 4, MIM# 614298 Spastic paraplegia 43, autosomal recessive, MIM# 615043 Tags
Green List (high evidence)	C19orf12 Early-onset Dementia v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 4, MIM# 614298 Tags
Green List (high evidence)	C19orf12 Dystonia - complex v0.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green List (high evidence)	C19orf12 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green List (high evidence)	C19orf12 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodegeneration with brain iron accumulation 4, MIM# 614298 Spastic paraplegia 43, autosomal recessive, MIM# 615043 Tags
Green List (high evidence)	C19orf12 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs Tags
Green List (high evidence)	C19orf12 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with brain iron accumulation 4, 614298 Spastic paraplegia 43, autosomal recessive, 615043 Tags
Green List (high evidence)	C19orf70 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 37, MIM# 618329 Tags
Green List (high evidence)	C1QBP Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 33, MIM# 617713 Tags
Green List (high evidence)	C1QBP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Victorian Clinical Genetics Services Phenotypes Progressive external opthalmoplegia mitochondrial myopathy Tags
Green List (high evidence)	C2orf69 Genetic Epilepsy v1.108	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)	C2orf69 Leukodystrophy - paediatric v0.318	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)	C2orf69 Mitochondrial disease v0.969	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)	C5orf42 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 17, MIM# 614615 Tags
Green List (high evidence)	C9orf3 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 31, MIM# 619565 Tags new gene name
Green List (high evidence)	C9orf3 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 31, MIM# 619565 Childhood/Adolescence onset generalised dystonia Dystonia parkinsonism Zech-Boesch Syndrome Tags new gene name
Green List (high evidence)	CA2 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730 Tags
Green List (high evidence)	CA5A Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags SV/CNV treatable
Green List (high evidence)	CA8 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Green List (high evidence)	CACNA1A Ataxia - paediatric v1.30	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green List (high evidence)	CACNA1A Ataxia - adult onset v1.18	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 6 familial hemiplegic migraine type 1, 141500 Familial hemiplegic migraine 1, 141500 SCA6, 183086 episodic ataxia type 2 (EA2),108500 Episodic ataxia type 2, 108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Episodic ataxia, type 2 Tags STR
Green List (high evidence)	CACNA1A Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 42, MIM# 617106 Tags
Green List (high evidence)	CACNA1A Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green List (high evidence)	CACNA1A Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Spinocerebellar ataxia 6 MIM#183086 Tags
Green List (high evidence)	CACNA1B Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 Tags
Green List (high evidence)	CACNA1C Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 Tags
Green List (high evidence)	CACNA1D Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474 Tags
Green List (high evidence)	CACNA1E Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green List (high evidence)	CACNA1G Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087 Tags
Green List (high evidence)	CACNA1G Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087 Tags
Green List (high evidence)	CACNA1G Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes early-onset SCA42 with neurodevelopmental deficits, 618087 Spinocerebellar ataxia 42, 616795 Tags
Green List (high evidence)	CACNA1G Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green List (high evidence)	CACNA1I Genetic Epilepsy v1.108	1 review 1 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)	CACNA1S Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes {Malignant hyperthermia susceptibility 5}, 601887 Tags
Green List (high evidence)	CACNA2D1 Genetic Epilepsy v1.108	3 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 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green List (high evidence)	CACNA2D2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green List (high evidence)	CAD Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 50 OMIM # 616457 Tags
Green List (high evidence)	CAD Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 50, MIM# 616457 Tags
Green List (high evidence)	CADM3 Hereditary Neuropathy_CMT - isolated v1.51	4 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)	CAMK2A Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature 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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Mental retardation, autosomal dominant 54, MIM# 617799 Tags
Green List (high evidence)	CAMK4 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags
Green List (high evidence)	CAMSAP1 Genetic Epilepsy v1.108	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 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Cerebellarataxia, nonprogressive, with mental retardation, 614756 Cerebellar ataxia with mental retardation, 614756 Tags
Green List (high evidence)	CANVAS STR Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	CANVAS STR Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	CAPN1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Phenotypes Spastic paraplegia 76 autosomal recessive, 616907 MONDO:0014827 Tags
Green List (high evidence)	CAPN1 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Expert list Phenotypes Spastic paraplegia 76, autosomal recessive, 616907 MONDO:0014827 Tags
Green List (high evidence)	CAPN3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129 Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Tags
Green List (high evidence)	CAPRIN1 Genetic Epilepsy v1.108	3 reviews 2 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)	CARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 27, MIM# 616672 MONDO:0014728 Tags
Green List (high evidence)	CARS2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 27, MIM# 616672 Tags
Green List (high evidence)	CASK Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship 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)	CASK Ataxia - paediatric v1.30	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 Royal Melbourne Hospital Expert Review Green Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Green List (high evidence)	CASQ1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Tags
Green List (high evidence)	CASQ1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Phenotypes Myopathy, vacuolar, with CASQ1 aggregates 616231 Tags founder
Green List (high evidence)	CASR Brain Calcification v1.99	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypocalcemia, autosomal dominant, MIM# 601198 Tags
Green List (high evidence)	CAT Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	CAV3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type IC 607801 Rippling muscle disease 606072 Myopathy, distal, Tateyama type 614321 Tags
Green List (high evidence)	CAV3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, distal, Tateyama type 614321 Rippling muscle disease 2 606072 Tags
Green List (high evidence)	CBL Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes early-onset moyamoya angiopathy Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 Tags
Green List (high evidence)	CBS Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Homocystinuria, B6-responsive and nonresponsive types MIM#236200 disorder of intracellular cobalamin metabolism metabolic disorder of sulfur metabolism Tags treatable
Green List (high evidence)	CBY1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags
Green List (high evidence)	CC2D2A Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9 Tags
Green List (high evidence)	CC2D2A Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM#612285 Tags
Green List (high evidence)	CCDC115 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIo (MIM# 616828) Tags
Green List (high evidence)	CCDC82 Hereditary Spastic Paraplegia - paediatric v1.86	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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes PEHO syndrome-like, 617507 Tags
Green List (high evidence)	CCDC88C Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hydrocephalus, congenital, 1 MIM#236600 Tags
Green List (high evidence)	CCM2 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Cerebral cavernous malformations 2 Cerebral Cavernous Malformation Capillary malformation-arteriovenous malformation 608354 Cerebral Cavernous Malformations Tags
Green List (high evidence)	CCT3 Genetic Epilepsy v1.108	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)	CD59 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300 Tags
Green List (high evidence)	CDK13 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360 Tags
Green List (high evidence)	CDK19 Genetic Epilepsy v1.108	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)	CDKL5 Genetic Epilepsy v1.108	3 reviews 3 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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Green List (high evidence)	CELF2 Genetic Epilepsy v1.108	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)	CEP290 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 5 Tags
Green List (high evidence)	CEP41 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15 Tags
Green List (high evidence)	CEP85L Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Lissencephaly, posterior predominant Tags
Green List (high evidence)	CERS1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, progressive myoclonic, 8 MIM#616230 Tags
Green List (high evidence)	CHCHD10 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, MIM# 615911 Tags
Green List (high evidence)	CHCHD10 Motor Neurone Disease v1.27	3 reviews 1 green	Unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	CHCHD10 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, Jokela type: 615048 CMT2 dHMN/dSMA Tags founder
Green List (high evidence)	CHCHD10 Mitochondrial disease v0.969	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	CHCHD10 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Green List (high evidence)	CHCHD2 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green List (high evidence)	CHCHD2 Mitochondrial disease v0.969	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green List (high evidence)	CHD1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Green List (high evidence)	CHD2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, childhood-onset (MIM # 615369) Tags
Green List (high evidence)	CHD3 Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Snijders Blok-Campeau syndrome MIM#618205 Tags
Green List (high evidence)	CHD4 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Sifrim-Hitz-Weiss syndrome, MIM# 617159 Childhood idiopathic epilepsy and sinus arrhythmia Tags
Green List (high evidence)	CHD5 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Tags
Green List (high evidence)	CHKA Genetic Epilepsy v1.108	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 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Intellectual disability Abnormal mitochondria Tags
Green List (high evidence)	CHMP2B Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936) Tags
Green List (high evidence)	CHMP2B Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795 MONDO:0010936) Tags
Green List (high evidence)	CHRNA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Tags
Green List (high evidence)	CHRNA2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, nocturnal frontal lobe, type 4 MIM#610353 Tags
Green List (high evidence)	CHRNA4 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Tags
Green List (high evidence)	CHRNB2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, nocturnal frontal lobe, 3, MIM# 605375 Tags
Green List (high evidence)	CHST14 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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)	CIAO1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Tags
Green List (high evidence)	CIC Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 45, MIM# 617600 Tags
Green List (high evidence)	CIC Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Expert list Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green List (high evidence)	CISD2 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Wolfram syndrome 2 MIM#604928 Tags
Green List (high evidence)	CJD STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green List (high evidence)	CLCN2 Ataxia - adult onset v1.18	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 Leukoencephalopathy with ataxia, 615651 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags
Green List (high evidence)	CLCN2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with ataxia, MIM# 615651 Tags
Green List (high evidence)	CLCN2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with ataxia, 615651 Tags
Green List (high evidence)	CLCN3 Genetic Epilepsy v1.108	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 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 Genetic Epilepsy v1.108	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 Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	CLCN6 Lysosomal Storage Disorder v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Benign partial epilepsy febrile seizures NCL Tags
Green List (high evidence)	CLDN10 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism HELIX syndrome MONDO:0060564 Tags
Green List (high evidence)	CLDN11 Leukodystrophy - paediatric v0.318	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)	CLDN16 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism renal hypomagnesemia 3 MONDO:0009550 Tags
Green List (high evidence)	CLDN19 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism renal hypomagnesemia 5 with ocular involvement MONDO:0009548 Tags
Green List (high evidence)	CLDN5 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disorder, MONDO:0002254, CLDN5-related Tags
Green List (high evidence)	CLDN5 Brain Calcification v1.99	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)	CLN3 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
Green List (high evidence)	CLN3 Lysosomal Storage Disorder v1.13	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)	CLN3 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 3 204200 Tags
Green List (high evidence)	CLN3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Green List (high evidence)	CLN5 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 Tags
Green List (high evidence)	CLN5 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis neuronal 5, MIM# 256731 Tags
Green List (high evidence)	CLN5 Lysosomal Storage Disorder v1.13	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 Lysosomal Storage Disorder v1.13	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)	CLN6 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Tags
Green List (high evidence)	CLN6 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid neuronal lipofuscinosis 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid neuronal lipofuscinosis kufs type, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780 Tags
Green List (high evidence)	CLN6 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300 Tags
Green List (high evidence)	CLN8 Lysosomal Storage Disorder v1.13	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 founder
Green List (high evidence)	CLN8 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags
Green List (high evidence)	CLP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 10 dHMN/dSMA Tags
Green List (high evidence)	CLPB Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Tags
Green List (high evidence)	CLPB Mitochondrial disease v0.969	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 3, MIM#614129 Tags
Green List (high evidence)	CLPP Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Green List (high evidence)	CLPP Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CLTC Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green List (high evidence)	CNKSR2 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Tags
Green List (high evidence)	CNNM2 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green List (high evidence)	CNNM2 Metal Metabolism Disorders v0.45	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes renal hypomagnesemia 6 MONDO:0013480 Disorders of magnesium metabolism Tags
Green List (high evidence)	CNOT9 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Green List (high evidence)	CNTN2 Genetic Epilepsy v1.108	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, MONDO:0015653, CNTN2-related Epilepsy, myoclonic, familial adult, 5 MIM#615400 Tags
Green List (high evidence)	CNTNAP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049 MIM#618186) Tags
Green List (high evidence)	CNTNAP1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating neuropathy, congenital, 3, MIM# 618186 Lethal congenital contracture syndrome 7, MIM# 616286 Tags
Green List (high evidence)	CNTNAP2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Tags
Green List (high evidence)	COA6 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501 Cardioencephalomyopathy, fatal infantile, MONDO:0014668 Tags
Green List (high evidence)	COA7 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy Tags
Green List (high evidence)	COA7 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia with axonal neuropathy Tags
Green List (high evidence)	COA7 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green List (high evidence)	COA7 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green List (high evidence)	COA7 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green List (high evidence)	COASY Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 6 MIM#615643 Pontocerebellar hypoplasia, type 12 MIM#618266 Tags
Green List (high evidence)	COASY Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes OMIM 618266) COASY protein-associated neurodegeneration (CoPAN Tags
Green List (high evidence)	COASY Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes neurodegeneration with brain iron accumulation 6, MONDO:0014290 Neurodegeneration with brain iron accumulation 6 615643 Tags
Green List (high evidence)	COG1 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj 613489 Tags
Green List (high evidence)	COG5 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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)	COG7 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green List (high evidence)	COG8 Congenital Disorders of Glycosylation v1.58	1 review 1 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)	COL18A1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Knobloch syndrome, type 1, MIM# 267750 Tags
Green List (high evidence)	COL3A1 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Ehlers-Danlos syndrome, type IV 130050 Tags
Green List (high evidence)	COL3A1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Tags
Green List (high evidence)	COL4A1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 1 with or without ocular anomalies MONDO:0008289 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814 Tags
Green List (high evidence)	COL4A1 Cerebral vascular malformations v1.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773 Brain small vessel disease with or without ocular anomalies, MIM# 175780 Tags
Green List (high evidence)	COL4A1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	COL4A1 Brain Calcification v1.99	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brain small vessel disease with or without ocular anomalies, MIM# 175780 Tags
Green List (high evidence)	COL4A1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 Brain small vessel disease with or without ocular anomalies, 175780 Tags
Green List (high evidence)	COL4A2 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cerebral Palsy MONDO#0006497, COL4A2-related Brain small vessel disease 2 MIM# 614483 Tags
Green List (high evidence)	COL4A3BP Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder 34 (MIM#616351) Tags
Green List (high evidence)	COL6A1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green List (high evidence)	COL6A2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COL6A3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COLGALT1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 3 MIM#618360 Tags
Green List (high evidence)	COLGALT1 Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 3 MIM#618360 Tags
Green List (high evidence)	COQ2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green List (high evidence)	COQ2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green List (high evidence)	COQ2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Coenzyme Q10 deficiency, primary, 1 Tags
Green List (high evidence)	COQ4 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Tags treatable
Green List (high evidence)	COQ4 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Spastic ataxia 10, autosomal recessive, MIM# 620666 Tags treatable
Green List (high evidence)	COQ4 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Childhood-onset ataxia Tags treatable
Green List (high evidence)	COQ4 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spastic ataxia 10, autosomal recessive, MIM# 620666 Tags
Green List (high evidence)	COQ6 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	COQ7 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 8 MIM#616733 Tags
Green List (high evidence)	COQ7 Hereditary Neuropathy - complex v1.19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402 Tags
Green List (high evidence)	COQ8A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags
Green List (high evidence)	COQ8A Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Primary coenzyme Q10 deficiency 4, 612016 Spinocerebellar Ataxia Type Coenzyme Q10 deficiency, primary 4, 612016 Tags treatable
Green List (high evidence)	COQ8A Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags treatable
Green List (high evidence)	COQ8A Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM# 612016 Tags treatable
Green List (high evidence)	COQ8A Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green List (high evidence)	COQ8B Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	COQ9 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	COQ9 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Green List (high evidence)	COX10 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green List (high evidence)	COX10 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green List (high evidence)	COX11 Mitochondrial disease v0.969	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)	COX11 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green List (high evidence)	COX15 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorders Tags
Green List (high evidence)	COX15 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Tags
Green List (high evidence)	COX20 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, 220110 Mitochondrial complex IV deficiency Tags
Green List (high evidence)	COX20 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Tags
Green List (high evidence)	COX20 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes sensory neuronopathy sensory neuron disease ganglionopathy Tags
Green List (high evidence)	COX6A1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039 MONDO:0014467 Tags
Green List (high evidence)	COX6A1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039 MONDO:0014467 HMSN Tags
Green List (high evidence)	COX6A2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062 Tags
Green List (high evidence)	COX6B1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Green List (high evidence)	COX7B Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CP Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 604290 ACERULOPLASMINEMIA 604290 Hemosiderosis, systemic, due to aceruloplasminemia Tags
Green List (high evidence)	CP Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green List (high evidence)	CP Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Aceruloplasminemia Tags
Green List (high evidence)	CP Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290 Tags
Green List (high evidence)	CP Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
Green List (high evidence)	CP Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290 Tags
Green List (high evidence)	CPLX1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 63, MIM# 617976 Tags
Green List (high evidence)	CPOX Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Coproporphyria, MIM#121300 Harderoporphyria, MIM#121300 Tags
Green List (high evidence)	CPSF3 Genetic Epilepsy v1.108	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 Fatty Acid Oxidation Defects v1.14	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)	CPT1A Genetic Epilepsy v1.108	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes CPT deficiency, hepatic, type IA, MIM# 255120 Tags
Green List (high evidence)	CPT1A Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Phenotypes CPT deficiency, hepatic, type IA MIM#255120 Tags treatable
Green List (high evidence)	CPT1C Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 73, autosomal dominant, MIM#616282 MONDO:0014568 Tags
Green List (high evidence)	CPT2 Mitochondrial disease v0.969	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 CPT II deficiency, myopathic, stress-induced MIM#255110 Tags treatable
Green List (high evidence)	CPT2 Fatty Acid Oxidation Defects v1.14	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)	CPT2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Tags treatable
Green List (high evidence)	CPT2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags
Green List (high evidence)	CRADD Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Tags
Green List (high evidence)	CREBBP Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green List (high evidence)	CRELD1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Tags
Green List (high evidence)	CRLS1 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green List (high evidence)	CSF1R Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags
Green List (high evidence)	CSF1R Early-onset Dementia v1.29	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	CSF1R Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820 ataxia Tags
Green List (high evidence)	CSF1R Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027 Tags
Green List (high evidence)	CSF1R Genetic Epilepsy v1.108	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 Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476) Tags
Green List (high evidence)	CSGALNACT1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green List (high evidence)	CSMD1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	CSMD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	CSNK2A1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Okur-Chung neurodevelopmental syndrome, MIM# 617062 Tags
Green List (high evidence)	CSNK2B Genetic Epilepsy v1.108	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Tags
Green List (high evidence)	CST3 Early-onset Dementia v1.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cerebral amyloid angiopathy MIM#105150 leukodystrophy MONDO:0019046 Tags founder
Green List (high evidence)	CST3 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes leukodystrophy MONDO:0019046 Tags
Green List (high evidence)	CSTB Genetic Epilepsy v1.108	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 Tags 5'UTR STR
Green List (high evidence)	CSTB Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800 Tags 5'UTR STR
Green List (high evidence)	CTBP1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Tags
Green List (high evidence)	CTC1 Brain Calcification v1.99	2 reviews 2 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)	CTC1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green List (high evidence)	CTDP1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) Tags deep intronic founder
Green List (high evidence)	CTNNA2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green List (high evidence)	CTNS Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800 Cystinosis, ocular nonnephropathic 219750 Tags treatable
Green List (high evidence)	CTSA Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy Tags
Green List (high evidence)	CTSA Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosialidosis, MIM# 256540 Tags
Green List (high evidence)	CTSC Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 other lysosomal disorder Tags
Green List (high evidence)	CTSC Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ectodermal dysplasia syndrome MONDO:0019287 Other disorders of complex molecule degradation Tags
Green List (high evidence)	CTSD Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 MONDO:0012414 Tags
Green List (high evidence)	CTSD Lysosomal Storage Disorder v1.13	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 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 Tags
Green List (high evidence)	CTSF Lysosomal Storage Disorder v1.13	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)	CTSF Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362 Tags
Green List (high evidence)	CTSK Lysosomal Storage Disorder v1.13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pycnodysostosis 265800 Tags
Green List (high evidence)	CTU2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green List (high evidence)	CUL4B Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 Tags
Green List (high evidence)	CUX2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 67, MIM#618141 Tags
Green List (high evidence)	CWF19L1 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 17, MIM# 616127 Tags
Green List (high evidence)	CWF19L1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Autosomal recessive spinocerebellar ataxia type 17, 616127 Tags
Green List (high evidence)	CXorf56 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Mental retardation, X-linked 107, MIM# 301013 Tags
Green List (high evidence)	CYC1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	CYCS Mitochondrial disease v0.969	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Thrombocytopenia 4, MIM#612004 Tags
Green List (high evidence)	CYFIP2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 65, MIM#618008 Tags
Green List (high evidence)	CYP27A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags
Green List (high evidence)	CYP27A1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	CYP27A1 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, 213700 MONDO:0008948 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green List (high evidence)	CYP27A1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Cholestanol storage disease Tags
Green List (high evidence)	CYP27A1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Cholestanol storage disease Dystonia Tags
Green List (high evidence)	CYP27A1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	CYP27A1 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Tags
Green List (high evidence)	CYP27A1 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas Epilepsy Parkinsonism Ataxia Peripheral neuropathy Tags
Green List (high evidence)	CYP27A1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags
Green List (high evidence)	CYP2U1 Brain Calcification v1.99	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 56, autosomal recessive, MIM# 615030 Tags
Green List (high evidence)	CYP2U1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Green List (high evidence)	CYP2U1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Green List (high evidence)	CYP7B1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV Tags
Green List (high evidence)	CYP7B1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green List (high evidence)	CYP7B1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green List (high evidence)	CYP7B1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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)	CYP7B1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive 270800 Tags
Green List (high evidence)	CYP7B1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 MONDO:0010047 Tags
Green List (high evidence)	D2HGDH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green List (high evidence)	D2HGDH Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green List (high evidence)	D2HGDH Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes L2-Hydroxyglutaric aciduria Tags
Green List (high evidence)	DAG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Green List (high evidence)	DAGLA Ataxia - paediatric v1.30	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 Mitochondrial disease v0.969	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 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Brain stem and spinal cord Hypomyelination leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags
Green List (high evidence)	DARS Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green List (high evidence)	DARS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green List (high evidence)	DARS Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new gene name
Green List (high evidence)	DARS2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green List (high evidence)	DARS2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green List (high evidence)	DARS2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	DARS2 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings Tags
Green List (high evidence)	DARS2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green List (high evidence)	DBH Neurotransmitter Defects v1.7	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)	DBT Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Maple syrup urine disease, type II (MIM#248600) Tags treatable
Green List (high evidence)	DCAF17 Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Woodhouse-Sakati syndrome Tags
Green List (high evidence)	DCAF17 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Woodhouse-Sakati syndrome MONDO:0009419 Dystonia Tags
Green List (high evidence)	DCAF17 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Woodhouse-Sakati syndrome, MIM#241080 Tags
Green List (high evidence)	DCAF17 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green List (high evidence)	DCTN1 Motor Neurone Disease v1.27	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DCTN1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Perry syndrome, MIM# 168605 Tags
Green List (high evidence)	DCTN1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641 MONDO:0011879 Tags
Green List (high evidence)	DCTN1 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Perry syndrome MONDO:0008201 Tags
Green List (high evidence)	DCX Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Green List (high evidence)	DDC Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 Dystonia Tags clinical trial treatable
Green List (high evidence)	DDC Neurotransmitter Defects v1.7	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)	DDC Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Tags
Green List (high evidence)	DDHD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 28, autosomal recessive, MIM# 609340 MONDO:0012256 Tags
Green List (high evidence)	DDHD1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 MONDO:0012256 Tags
Green List (high evidence)	DDHD2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. Spastic paraplegia 54 Tags
Green List (high evidence)	DDHD2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018 Tags
Green List (high evidence)	DDHD2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018 Tags
Green List (high evidence)	DDX3X Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green List (high evidence)	DEAF1 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dyskinesia, seizures, and intellectual developmental disorder 617171 autosomal dominant mental retardation 24, MIM# 615828 Tags
Green List (high evidence)	DEGS1 Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 18 618404 Tags
Green List (high evidence)	DEGS1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy hypomyelinating 18, MIM#618404 Tags
Green List (high evidence)	DEGS1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Tags
Green List (high evidence)	DENND5A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green List (high evidence)	DENND5B Leukodystrophy - paediatric v0.318	1 review 1 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 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, familial focal, with variable foci 1 MIM#604364 Developmental and epileptic encephalopathy 111, MIM# 620504 Tags
Green List (high evidence)	DES Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 1 601419 Tags
Green List (high evidence)	DGUOK Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 3 Tags
Green List (high evidence)	DGUOK Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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)	DGUOK Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	DGUOK Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy Tags
Green List (high evidence)	DHCR24 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Desmosterolosis, MIM# 602398 Tags
Green List (high evidence)	DHCR24 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Desmosterolosis MIM#602398 Disorders of the metabolism of sterols Tags
Green List (high evidence)	DHCR7 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Smith-Lemli-Opitz syndrome MIM#270400 Disorders of sterol biosynthesis Tags
Green List (high evidence)	DHDDS Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags
Green List (high evidence)	DHDDS Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Congenital disorder of glycosylation, MIM#613861 Tags
Green List (high evidence)	DHDDS Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags
Green List (high evidence)	DHFR Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Green List (high evidence)	DHH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 Tags
Green List (high evidence)	DHODH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Miller syndrome MIM#263750 Disorders of pyrimidine metabolism Tags
Green List (high evidence)	DHPS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Tags
Green List (high evidence)	DHRSX Congenital Disorders of Glycosylation v1.58	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)	DHRSX Genetic Epilepsy v1.108	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 2-aminoadipic 2-oxoadipic aciduria MIM#204750 Disorders of histidine, tryptophan or lysine metabolism Tags
Green List (high evidence)	DHX16 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Tags
Green List (high evidence)	DHX9 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related Tags
Green List (high evidence)	DIAPH1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Tags
Green List (high evidence)	DIP2C Genetic Epilepsy v1.108	2 reviews 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)	DLAT Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pyruvate dehydrogenase E2 deficiency 245348 Dystonia Tags
Green List (high evidence)	DLAT Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	DLD Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	DLG4 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 62 MIM#618793 Tags
Green List (high evidence)	DLL1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism seizures variable brain abnormalities scoliosis Tags
Green List (high evidence)	DM1 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900 Tags
Green List (high evidence)	DMD Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 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 Expert Review Green Royal Melbourne Hospital Phenotypes Becker muscular dystrophy 300376 Tags
Green List (high evidence)	DMD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 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 Expert Review Green Royal Melbourne Hospital Phenotypes Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376 Tags
Green List (high evidence)	DMXL2 Genetic Epilepsy v1.108	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 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	DNA2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green List (high evidence)	DNAJB2 Motor Neurone Disease v1.27	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green List (high evidence)	DNAJB2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green List (high evidence)	DNAJB4 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Expert Review Green Literature Phenotypes distal myopathy MONDO:0018949 Myopathy, MONDO:0005336, DNAJB4-related Tags
Green List (high evidence)	DNAJB6 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1E, 603511 Tags
Green List (high evidence)	DNAJC12 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Green List (high evidence)	DNAJC12 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green List (high evidence)	DNAJC12 Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384 Tags
Green List (high evidence)	DNAJC19 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	DNAJC19 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome 3-methylglutaconic aciduria type V, 610198 Tags
Green List (high evidence)	DNAJC3 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Tags
Green List (high evidence)	DNAJC30 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leber Hereditary Optic Neuropathy, MIM#619382 Tags
Green List (high evidence)	DNAJC5 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes adult neuronal ceroid lipofuscinosis (MONDO:0019260) Tags
Green List (high evidence)	DNAJC5 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 Ceroid neuronal lipofuscinosis 4, Parry type, 162350 Tags
Green List (high evidence)	DNAJC5 Lysosomal Storage Disorder v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 MONDO:0008083 Tags
Green List (high evidence)	DNAJC5 Early-onset Dementia v1.29	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DNAJC5 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 Tags
Green List (high evidence)	DNAJC6 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes juvenile onset Parkinson disease 19A MONDO:0014231 Tags
Green List (high evidence)	DNM1 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DNM1L Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) Tags
Green List (high evidence)	DNM1L Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	DNM2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital 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)	DNM2 Mitochondrial disease v0.969	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 Lethal congenital contracture syndrome 5, MIM# 615368 Tags
Green List (high evidence)	DNM2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant centronuclear myopathy MONDO:0008048 Tags
Green List (high evidence)	DNMT1 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Dementia, Deafness, and Sensory Neuropathy HSAN/SFN Tags
Green List (high evidence)	DNMT1 Early-onset Dementia v1.29	1 review	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DNMT1 Ataxia - adult onset v1.18	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cerebellar ataxia, deafness and narcolepsy, 604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Hereditary sensory neuropathy type IE, 614116 Tags
Green List (high evidence)	DOCK3 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green List (high evidence)	DOCK7 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 23 MIM#615859 MONDO:0014371 Tags
Green List (high evidence)	DOHH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, DOHH-related (MONDO#0700092) Tags
Green List (high evidence)	DOK7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 10 254300 Tags
Green List (high evidence)	DOLK Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation type Im, 610768 Tags
Green List (high evidence)	DOLK Congenital Disorders of Glycosylation v1.58	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)	DPAGT1 Congenital Disorders of Glycosylation v1.58	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 Tags
Green List (high evidence)	DPAGT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green List (high evidence)	DPM1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, MIM# 608799 Tags
Green List (high evidence)	DPM1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ie, 608799 Tags
Green List (high evidence)	DPM2 Congenital Disorders of Glycosylation v1.58	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937 Tags
Green List (high evidence)	DPM3 Congenital Disorders of Glycosylation v1.58	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)	DPYD Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dihydropyrimidine dehydrogenase deficiency MIM#274270 5-fluorouracil toxicity MIM#274270 Disorders of pyrimidine metabolism Tags pharmacogenomic
Green List (high evidence)	DPYD Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Dihydropyrimidine dehydrogenase deficiency, MIM# 274270 Tags SV/CNV
Green List (high evidence)	DPYD Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 5-fluorouracil toxicity 274270 Tags
Green List (high evidence)	DPYS Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Dihydropyrimidinuria MIM#222748 Disorders of pyrimidine metabolism Tags
Green List (high evidence)	DRP2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth, intermediate X-linked HMSN Tags
Green List (high evidence)	DRPLA STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green List (high evidence)	DRPLA STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green List (high evidence)	DST Pain syndromes v0.34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neuropathy, hereditary sensory and autonomic, type VI MIM#614653 Tags
Green List (high evidence)	DST Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653 MONDO:0013839 HSAN/SFN Tags
Green List (high evidence)	DTNA Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green List (high evidence)	DYNC1H1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 Tags
Green List (high evidence)	DYNC1H1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563 Tags
Green List (high evidence)	DYRK1A Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 7, MIM# 614104 MONDO:0013578 Tags SV/CNV
Green List (high evidence)	DYSF Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, distal, with anterior tibial onset, 606768 Miyoshi muscular dystrophy 1, 254130 Muscular dystrophy, limb-girdle, type 2B, 253601 Tags
Green List (high evidence)	DYSF Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Miyoshi muscular dystrophy 1 254130 Tags
Green List (high evidence)	EARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	EARS2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	EARS2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 12, MIM# 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate Tags
Green List (high evidence)	EBF3 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 Tags
Green List (high evidence)	ECHS1 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277 Dystonia Tags
Green List (high evidence)	ECHS1 Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green List (high evidence)	ECHS1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Leigh syndrome MONDO:0009723 Tags
Green List (high evidence)	ECHS1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green List (high evidence)	ECHS1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green List (high evidence)	ECM1 Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Urbach-Wiethe disease, MIM# 247100 Tags
Green List (high evidence)	ECM1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Urbach-Wiethe disease, MIM# 247100 Tags
Green List (high evidence)	EDEM3 Congenital Disorders of Glycosylation v1.58	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)	EEF1A2 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Neurodevelopmental disorder MONDO:0700092 non-syndromic ID and seizures Tags
Green List (high evidence)	EEFSEC Genetic Epilepsy v1.108	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)	EEFSEC Ataxia - paediatric v1.30	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)	EFTUD2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536 Tags
Green List (high evidence)	EGR2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital 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)	EHMT1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Kleefstra syndrome 1, MIM# 610253 MONDO:0027407 Tags SV/CNV
Green List (high evidence)	EIF2AK2 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness Tags
Green List (high evidence)	EIF2AK2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness early onset dystonia Tags
Green List (high evidence)	EIF2AK2 Dystonia - isolated/combined v1.37	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Dystonia 33, MIM# 619687 Tags
Green List (high evidence)	EIF2AK2 Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Neurodevelopmental Syndrome Developmental delays Ataxia Parkinsonism White matter alterations Tags
Green List (high evidence)	EIF2AK2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Tags
Green List (high evidence)	EIF2B1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B1 Genetic Epilepsy v1.108	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Tags
Green List (high evidence)	EIF2B1 Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green List (high evidence)	EIF2B1 Ataxia - adult onset v1.18	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green List (high evidence)	EIF2B2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Ovarioleukodystrophy, MIM# 603896 Tags
Green List (high evidence)	EIF2B2 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B2 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green List (high evidence)	EIF2B3 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380 Tags
Green List (high evidence)	EIF2B3 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B3 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B4 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B4 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B4 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B4 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380 Tags
Green List (high evidence)	EIF2B4 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green List (high evidence)	EIF2B5 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green List (high evidence)	EIF2B5 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green List (high evidence)	EIF2B5 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B5 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2S3 Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes MEHMO syndrome MIM# 300148 Tags
Green List (high evidence)	EIF3F Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green List (high evidence)	EIF4A2 Genetic Epilepsy v1.108	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)	EIF4A2 Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green List (high evidence)	ELAC2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green List (high evidence)	ELOVL1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green List (high evidence)	ELOVL1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green List (high evidence)	ELOVL4 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia 34 133190 Spinocerebellar ataxia 34, 133190 Tags
Green List (high evidence)	ELOVL4 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Phenotypes Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457) Tags
Green List (high evidence)	ELOVL5 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 38, MIM#615957 Tags
Green List (high evidence)	ELP1 Pain syndromes v0.34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Familial dysautonomia NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III Dysautonomia, familial, 223900 Tags
Green List (high evidence)	ELP1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dysautonomia, familial, 223900 Riley-Day syndrome MONDO:0009131 Hereditary sensory and autonomic neuropathy 3 HSAN/SFN Tags
Green List (high evidence)	EMC1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder, MONDO:0700092, EMC1-related Tags
Green List (high evidence)	EMC10 Genetic Epilepsy v1.108	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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 Expert list Royal Melbourne Hospital Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green List (high evidence)	EML1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Band heterotopia (MIM# 600348) Tags
Green List (high evidence)	ENG Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 187300 Tags
Green List (high evidence)	ENO3 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glycogen storage disease XIII 612932 Tags
Green List (high evidence)	ENO3 Glycogen Storage Diseases v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XIII, MIM#612932 Tags
Green List (high evidence)	ENTPD1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 64, autosomal recessive MIM#615683 Tags
Green List (high evidence)	ENTPD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 64, autosomal recessive, MIM# 615683 Tags
Green List (high evidence)	EOGT Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 4 (MIM #615297) scalp aplasia cutis congenita transverse terminal limb defects Tags
Green List (high evidence)	EP400 Genetic Epilepsy v1.108	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)	EPB41L3 Genetic Epilepsy v1.108	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)	EPG5 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy Vici syndrome MONDO:0009452 Tags
Green List (high evidence)	EPG5 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Vici syndrome, MIM# 242840 Tags
Green List (high evidence)	EPG5 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Vici syndrome MIM#242840 Congenital disorders of autophagy Tags
Green List (high evidence)	EPHB4 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Capillary malformation-arteriovenous malformation 2, 618196 Tags
Green List (high evidence)	EPM1 STR Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags STR
Green List (high evidence)	EPM2A Glycogen Storage Diseases v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Tags
Green List (high evidence)	EPM2A Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green List (high evidence)	EPM2A Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780 Tags
Green List (high evidence)	EPM2A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Lafora disease MONDO:0009697 Tags
Green List (high evidence)	EPRS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 15, MIM# 617951 Tags
Green List (high evidence)	EPRS Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 15, MIM#617951 Tags
Green List (high evidence)	ERCC4 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia Xeroderma pigmentosum, group F, MIM# 278760 Tags
Green List (high evidence)	ERCC6 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type B, MIM#133540 Tags
Green List (high evidence)	ERCC6 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type B MIM#133540 Tags
Green List (high evidence)	ERCC6 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cockayne syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ERCC8 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type A, MIM# 216400 Tags
Green List (high evidence)	ERCC8 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type A MIM#216400 Tags
Green List (high evidence)	ERCC8 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cockayne Syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ERLIN1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 62, 615681 Hereditary spastic paraplegia Tags
Green List (high evidence)	ERLIN2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Tags
Green List (high evidence)	ERLIN2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Tags
Green List (high evidence)	ESAM Genetic Epilepsy v1.108	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)	ESAM Brain Calcification v1.99	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)	ETFA Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIA, MIM# 231680 Tags treatable
Green List (high evidence)	ETFA Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIA MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green List (high evidence)	ETFA Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIA 231680 Tags treatable
Green List (high evidence)	ETFB Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIB, MIM# 231680 Tags treatable
Green List (high evidence)	ETFB Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIB MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green List (high evidence)	ETFDH Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Glutaric Acidemia IIC Tags treatable
Green List (high evidence)	ETFDH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 sensory neuropathy Tags treatable
Green List (high evidence)	ETFDH Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIC, MIM# 231680 Tags treatable
Green List (high evidence)	ETFDH Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIC 231680 Tags treatable
Green List (high evidence)	ETFDH Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glutaric acidemia IIC MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green List (high evidence)	ETHE1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green List (high evidence)	ETHE1 Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ethylmalonic encephalopathy, MIM# 602473 Tags treatable
Green List (high evidence)	ETHE1 Mitochondrial disease v0.969	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green List (high evidence)	EXOC7 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes brain atrophy seizures developmental delay microcephaly Tags
Green List (high evidence)	EXOSC3 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green List (high evidence)	EXOSC5 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Pontocerebellar hypoplasia, type 1c, MIM# 616081 Tags
Green List (high evidence)	EXOSC9 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia, type 1D, MIM# 618065 Tags
Green List (high evidence)	EXT1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exostoses, multiple, type 1 133700 Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green List (high evidence)	EXT2 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, scoliosis, and macrocephaly syndrome 616682 Exostoses, multiple, type 2 133701 Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green List (high evidence)	EXT2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Tags
Green List (high evidence)	EXTL3 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green List (high evidence)	FA2H Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 35, autosomal recessive, MIM# 612319 Tags
Green List (high evidence)	FA2H Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Fatty acid hydroxylase-associated neurodegeneration (FAHN) Tags
Green List (high evidence)	FA2H Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 35, autosomal recessive MIM#612319 Tags
Green List (high evidence)	FA2H Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 35, autosomal recessive, MIM#612319 Tags
Green List (high evidence)	FA2H Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 35, autosomal recessive, 611026 MONDO:0012866 Tags
Green List (high evidence)	FA2H Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia Spastic paraplegia 35, autosomal recessive 612319 fatty acid hydroxylase-associated neurodegeneration Tags
Green List (high evidence)	FA2H Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spastic paraplegia 35, autosomal recessive, MIM#611026 Tags
Green List (high evidence)	FAH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Tyrosinemia, type I, MIM# 276700 Tags treatable
Green List (high evidence)	FAM111A Brain Calcification v1.99	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 Tags
Green List (high evidence)	FAM126A Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags
Green List (high evidence)	FAM20C Brain Calcification v1.99	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Raine syndrome, MIM# 259775 Tags
Green List (high evidence)	FAME2 STR Genetic Epilepsy v1.108	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)	FAR1 Peroxisomal Disorders v0.54	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) Cataracts, spastic paraparesis, and speech delay, MIM#619338 Tags
Green List (high evidence)	FAR1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cataracts, spastic paraparesis, and speech delay, MIM#619338 Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 Tags
Green List (high evidence)	FARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Tags
Green List (high evidence)	FARS2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes combined oxidative phosphorylation defect type 14 MONDO:0013986 Tags
Green List (high evidence)	FARS2 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes combined oxidative phosphorylation defect type 14 MONDO:0013986 hereditary spastic paraplegia 77 MONDO:0014882 Tags
Green List (high evidence)	FARSA Brain Calcification v1.99	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 Tags
Green List (high evidence)	FARSB Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Rajab syndrome, MIM#613658 interstitial lung disease brain calcifications microcephaly intellectual disability Tags
Green List (high evidence)	FASTKD2 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 44, MIM# 618855 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 Tags
Green List (high evidence)	FASTKD2 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Green List (high evidence)	FASTKD2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Combined oxidative phosphorylation deficiency 44 (MIM#618855) Tags
Green List (high evidence)	FAT2 Ataxia - adult onset v1.18	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Expert list Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia 45, MIM#617769 Tags
Green List (high evidence)	FBLN5 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895 Tags
Green List (high evidence)	FBP1 Glycogen Storage Diseases v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fructose-1,6-bisphosphatase deficiency, MIM# 229700 Tags
Green List (high evidence)	FBXL4 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 Tags
Green List (high evidence)	FBXL4 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green List (high evidence)	FBXL4 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green List (high evidence)	FBXO11 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Tags
Green List (high evidence)	FBXO28 Genetic Epilepsy v1.108	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)	FBXO28 Dystonia - complex v0.272	2 reviews 2 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)	FBXO7 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes parkinsonian-pyramidal syndrome MONDO:0009830 Tags
Green List (high evidence)	FBXO7 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes juvenile parkinsonism Dystonia Tags
Green List (high evidence)	FBXO7 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Parkinson disease 15, autosomal recessive MIM#260300 Tags
Green List (high evidence)	FDFT1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes squalene synthase deficiency MONDO:0032566 Tags
Green List (high evidence)	FDFT1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Squalene synthase deficiency, MIM# 618156 Tags
Green List (high evidence)	FDX2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Green List (high evidence)	FDX2 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900 inborn mitochondrial myopathy MONDO:0009637 Tags
Green List (high evidence)	FDXR Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services 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)	FDXR Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green List (high evidence)	FGD4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, type 4H, 609311 MONDO:0012250 HMSN Tags
Green List (high evidence)	FGF12 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 47, MIM# 617166 Tags
Green List (high evidence)	FGF13 Genetic Epilepsy v1.108	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 disability epilepsy Tags
Green List (high evidence)	FGF14 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 27 MIM#609307 Tags
Green List (high evidence)	FGF14 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia type 27, 609307 Spinocerebellar ataxia 27 Tags
Green List (high evidence)	FGFR1 Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hartsfield syndrome (MIM#615465) Tags
Green List (high evidence)	FGFR3 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypochondroplasia, MIM#146000 Tags
Green List (high evidence)	FH Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	FH Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Fumarase deficiency, MIM#606812 Tags
Green List (high evidence)	FHL1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 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 Expert list Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green List (high evidence)	FICD Hereditary Spastic Paraplegia - paediatric v1.86	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)	FICD Hereditary Neuropathy_CMT - isolated v1.51	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 Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, type 4J 611228 Yunis-Varon syndrome 216340 leukoencephalopathy Tags
Green List (high evidence)	FIG4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 4J, MIM# 611228 MONDO:0012640 HMSN Tags
Green List (high evidence)	FITM2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Siddiqi syndrome MIM#618635 dystonia deafness Tags
Green List (high evidence)	FKRP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	FKRP Congenital Disorders of Glycosylation v1.58	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, 5 613153 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green List (high evidence)	FKRP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green List (high evidence)	FKTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800 Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Cardiomyopathy, dilated, 1X, 611615 Tags
Green List (high evidence)	FKTN Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green List (high evidence)	FKTN Congenital Disorders of Glycosylation v1.58	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, 4 253800 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Tags
Green List (high evidence)	FLAD1 Fatty Acid Oxidation Defects v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 Tags
Green List (high evidence)	FLAD1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	FLAD1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green List (high evidence)	FLNA Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Heterotopia, periventricular, 1, MIM# 300049 Tags
Green List (high evidence)	FLNC Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Phenotypes Cardiomyopathy, familial restrictive 5 617047 Myopathy, distal, 4 614065 Myopathy, myofibrillar, 5 609524 Tags
Green List (high evidence)	FLVCR1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia, posterior column, with retinitis pigmentosa MIM#609033 Tags
Green List (high evidence)	FLVCR1 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Posterior column ataxia with retinitis pigmentosa, 609033 Ataxia, posterior column, with retinitis pigmentosa, Posterior Column Ataxia with Retinitis Pigmentosa Tags
Green List (high evidence)	FLVCR1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033 Tags
Green List (high evidence)	FLVCR1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green List (high evidence)	FLVCR2 Cerebral vascular malformations v1.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome Tags
Green List (high evidence)	FMO3 Miscellaneous Metabolic Disorders v1.48	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Trimethylaminuria MIM#602079 Disorders and variants of other enzymes that oxidise xenobiotics Tags
Green List (high evidence)	FOLR1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency 613068 Tags
Green List (high evidence)	FOLR1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green List (high evidence)	FOLR1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Neurodegeneration due to cerebral folate transport deficiency Tags
Green List (high evidence)	FOLR1 Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green List (high evidence)	FOXG1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Rett syndrome, congenital variant, MIM# 613454 Tags
Green List (high evidence)	FOXG1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Rett syndrome, congenital variant Dystonia Tags
Green List (high evidence)	FOXG1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Rett syndrome, congenital variant, MIM# 613454 Developmental and Epileptic Encephalopathy Dystonia, Athetosis Parkinsonism Stereotypies Tags
Green List (high evidence)	FOXP1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670 Tags
Green List (high evidence)	FOXRED1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Tags
Green List (high evidence)	FOXRED1 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 Tags
Green List (high evidence)	FRDA STR Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green List (high evidence)	FRMD5 Genetic Epilepsy v1.108	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)	FRMD5 Ataxia - paediatric v1.30	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)	FRRS1L Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 37, MIM# 616981 Seizures Chorea Parkinsonism Developmental delay Tags
Green List (high evidence)	FRRS1L Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy, 37 MONDO:0014859 Tags
Green List (high evidence)	FTCD Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutamate formiminotransferase deficiency MIM#229100 Disorders of histidine, tryptophan or lysine metabolism Tags
Green List (high evidence)	FTDALS STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green List (high evidence)	FTDALS STR Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 Tags
Green List (high evidence)	FTDALS STR Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green List (high evidence)	FTDALS STR Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green List (high evidence)	FTDALS STR Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green List (high evidence)	FTH1 Neurodegeneration with brain iron accumulation v1.0	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodegeneration with brain iron accumulation 9, MIM# 620669 Tags
Green List (high evidence)	FTL Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags
Green List (high evidence)	FTL Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FTL Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources GeneReviews Expert Review Green Phenotypes Neuroferritinopathy Tags
Green List (high evidence)	FTL Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags
Green List (high evidence)	FTL Metal Metabolism Disorders v0.45	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS Genomic Medicine Service Genomics England PanelApp Phenotypes 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 LFTD NBIA3 615604 L-FERRITIN DEFICIENCY HRFTC 606159 Neurodegeneration with brain iron accumulation 3 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 600886 Hyperferritinemia-cataract syndrome 615604 L-ferritin deficiency, dominant and recessive Tags
Green List (high evidence)	FUCA1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Fucosidosis General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	FUCA1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Fucosidosis, MIM# 230000 MONDO:0009254 Tags
Green List (high evidence)	FUCA1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fucosidosis, MIM#230000 Tags
Green List (high evidence)	FUCA1 Lysosomal Storage Disorder v1.13	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 Genetic Epilepsy v1.108	1 review 1 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)	FUK Congenital Disorders of Glycosylation v1.58	1 review 1 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)	FUS Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030) Tags
Green List (high evidence)	FUS Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030 Tags
Green List (high evidence)	FUT8 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green List (high evidence)	FUT8 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green List (high evidence)	FXN Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Friedreich ataxia, MIM# 229300 Tags STR
Green List (high evidence)	FXN Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green List (high evidence)	FXN Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Friedreich ataxia, MIM# 229300 Tags
Green List (high evidence)	FXN Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia, 229300 Tags STR SV/CNV
Green List (high evidence)	FXN Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia with retained reflexes,229300 Friedreich ataxia, 229300 Friedreichataxia, 229300 Tags STR
Green List (high evidence)	FXTAS STR Early-onset Parkinson disease v2.10	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 Fragile X tremor/ataxia syndrome MIM#300623 Tags
Green List (high evidence)	FXTAS STR Ataxia - adult onset v1.18	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 Expert list Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
Green List (high evidence)	FZR1 Genetic Epilepsy v1.108	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 Glycogen Storage Diseases v1.2	1 review 1 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 Congenital Disorders of Glycosylation v1.58	1 review	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)	GAA Lysosomal Storage Disorder v1.13	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)	GAA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease II (MIM#232300) Tags
Green List (high evidence)	GAA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycogen storage disease II 232300 Tags
Green List (high evidence)	GAA Glycogen Storage Diseases v1.2	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)	GABBR2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 59, MIM# 617904 Tags
Green List (high evidence)	GABBR2 Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy, 59 MONDO:0033368 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green List (high evidence)	GABRA1 Neurotransmitter Defects v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 19, MIM# 615744 Tags
Green List (high evidence)	GABRA1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome Tags
Green List (high evidence)	GABRA2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 78, MIM# 618557 Tags
Green List (high evidence)	GABRA3 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 45, MIM# 617153 Tags
Green List (high evidence)	GABRB1 Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy, 45 MONDO:0014942 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green List (high evidence)	GABRB2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Tags
Green List (high evidence)	GABRB2 Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green List (high evidence)	GABRB2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 Tags
Green List (high evidence)	GABRB3 Neurotransmitter Defects v1.7	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)	GABRB3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green List (high evidence)	GABRB3 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 43 MIM#617113 Tags
Green List (high evidence)	GABRD Neurotransmitter Defects v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green List (high evidence)	GABRD Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green List (high evidence)	GABRG2 Neurotransmitter Defects v1.7	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)	GABRG2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green List (high evidence)	GAD1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green List (high evidence)	GALC Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Krabbe disease, MIM# 245200 Tags
Green List (high evidence)	GALC Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Krabbe disease, MIM# 245200 Tags
Green List (high evidence)	GALC Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green List (high evidence)	GALC Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Krabbe disease, 245200 Tags
Green List (high evidence)	GALC Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Krabbe disease MIM#245200 Tags
Green List (high evidence)	GALC Lysosomal Storage Disorder v1.13	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactose epimerase deficiency MIM#230350 Disorders of galactose metabolism Tags treatable
Green List (high evidence)	GALK1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactokinase deficiency with cataracts MIM#230200 Disorders of galactose metabolism Tags treatable
Green List (high evidence)	GALM Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Galactosemia IV MIM#618881 Disorders of galactose metabolism Tags
Green List (high evidence)	GALNS Lysosomal Storage Disorder v1.13	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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation Tags
Green List (high evidence)	GALNT2 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt, MIM# 618885 Tags
Green List (high evidence)	GALNT3 Congenital Disorders of Glycosylation v1.58	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 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactosemia MIM#230400 Disorders of galactose metabolism Tags treatable
Green List (high evidence)	GALT Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Galactosemia, MIM#230400 Tags treatable
Green List (high evidence)	GAMT Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green List (high evidence)	GAMT Dystonia - complex v0.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Tags treatable
Green List (high evidence)	GAMT Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green List (high evidence)	GAN Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Green List (high evidence)	GAN Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Green List (high evidence)	GARS Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Spinal muscular atrophy, infantile, James type, MIM# 619042 Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new gene name
Green List (high evidence)	GARS Mitochondrial disease v0.969	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	GATA3 Brain Calcification v1.99	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags
Green List (high evidence)	GATM Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebral creatine deficiency syndrome 3 MIM#612718 Tags
Green List (high evidence)	GBA Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal, MIM# 608013 Gaucher disease, type I, MIM# 230800 Gaucher disease, type II, MIM# 230900 Gaucher disease, type III, MIM# 231000 Gaucher disease, type IIIC, MIM# 231005 Tags
Green List (high evidence)	GBA Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 230800 Gaucher disease, type I 230900 Gaucher disease, type II 231005 Gaucher disease, type IIIC 231000 Gaucher disease, type III Tags
Green List (high evidence)	GBA Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gaucher disease, type III, MIM# 231000 Tags
Green List (high evidence)	GBA Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Gaucher disease, perinatal lethal, MIM# 608013 Gaucher disease, type I, MIM# 230800 Gaucher disease, type II, MIM# 230900 Gaucher disease, type III, MIM# 231000 Gaucher disease, type IIIC, MIM# 231005 Tags
Green List (high evidence)	GBA Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parkinson's disease, MONDO:0005180, GBA-related Tags
Green List (high evidence)	GBA2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 MONDO:0013737 Tags
Green List (high evidence)	GBA2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy Tags
Green List (high evidence)	GBA2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, MIM# 614409 MONDO:0013737 Tags
Green List (high evidence)	GBA2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 46, autosomal recessive, MIM# 614409 Tags
Green List (high evidence)	GBE1 Glycogen Storage Diseases v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Tags
Green List (high evidence)	GBE1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Polyglucosan body disease, adult form, 263570 Tags
Green List (high evidence)	GBE1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GBE1 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GBE1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body disease, adult form MIM#263570 Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI Tags
Green List (high evidence)	GBE1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GBF1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	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 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Tags treatable
Green List (high evidence)	GCDH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutaricaciduria, type I MIM#231670 Organic acidurias Tags treatable
Green List (high evidence)	GCDH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric aciduria, type I MIM#231670 Tags
Green List (high evidence)	GCH1 Neurotransmitter Defects v1.7	1 review 1 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 Tags
Green List (high evidence)	GCH1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green List (high evidence)	GCH1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green List (high evidence)	GCH1 Dystonia - isolated/combined v1.37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green List (high evidence)	GCH1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Tags
Green List (high evidence)	GCH1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia MONDO:0019064, GCH1-related Tags
Green List (high evidence)	GCLC Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle Tags
Green List (high evidence)	GCM2 Brain Calcification v1.99	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypoparathyroidism, familial isolated 2, MIM# 618883 Tags
Green List (high evidence)	GCSH Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green List (high evidence)	GCSH Genetic Epilepsy v1.108	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green List (high evidence)	GDAP1 Mitochondrial disease v0.969	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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)	GDAP1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia Tags
Green List (high evidence)	GDPAG STR Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags
Green List (high evidence)	GEMIN5 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333 Tags
Green List (high evidence)	GFAP Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Alexander disease, MIM# 203450 Tags
Green List (high evidence)	GFAP Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Alexander disease, MIM# 203450 Tags
Green List (high evidence)	GFAP Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alexander disease, 203450 Tags
Green List (high evidence)	GFAP Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Alexander disease, 203450 Autosomal Dominant Ataxia Alexander disease Tags
Green List (high evidence)	GFAP Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alexander disease MONDO:0008752 Tags
Green List (high evidence)	GFAP Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Alexander disease MONDO:0008752 Tags
Green List (high evidence)	GFER Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Tags
Green List (high evidence)	GFER Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Tags
Green List (high evidence)	GFM1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1 Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	GFM1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 1 MIM#609060 Tags
Green List (high evidence)	GFM1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	GFM2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green List (high evidence)	GFPT1 Congenital Disorders of Glycosylation v1.58	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)	GFPT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates MIM#610542 Limb-girdle congenital myasthenic syndrome Tags
Green List (high evidence)	GJA1 Brain Calcification v1.99	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Oculodentodigital dysplasia, MIM# 164200 Tags
Green List (high evidence)	GJA1 Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Tags
Green List (high evidence)	GJA1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Tags
Green List (high evidence)	GJB1 Hereditary Neuropathy_CMT - isolated v1.51	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 Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 MONDO:0010549 HMSN Tags
Green List (high evidence)	GJB1 Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Reversible posterior leukoencephalopathy Tags
Green List (high evidence)	GJC2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green List (high evidence)	GJC2 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomyelinating leukodystrophy 2, 608804 Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Spastic paraplegia 44, 613206 Tags
Green List (high evidence)	GJC2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green List (high evidence)	GJC2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green List (high evidence)	GJC2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 2, 608804, Tags
Green List (high evidence)	GK Miscellaneous Metabolic Disorders v1.48	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Glycerol kinase deficiency MIM#307030 Disorders of glycerol metabolism Tags
Green List (high evidence)	GLA Lysosomal Storage Disorder v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fabry disease, MIM# 301500 MONDO:0010526 Tags
Green List (high evidence)	GLA Pain syndromes v0.34	0 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 Green Genomics England PanelApp Phenotypes Fabry disease, 301500 Tags
Green List (high evidence)	GLA Hereditary Neuropathy - complex v1.19	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 Green Royal Melbourne Hospital Phenotypes Cardiomyopathy HSAN/SFN Fabry disease Tags
Green List (high evidence)	GLA Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 Tags
Green List (high evidence)	GLA Early-onset Dementia v1.29	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 Fabry disease MONDO:0010526 Tags
Green List (high evidence)	GLB1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes GM1-gangliosidosis, type III , MIM#230650 Parkinsonism Tags
Green List (high evidence)	GLB1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM# 230600 Tags
Green List (high evidence)	GLB1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GM1 gangliosidosis type 3 MONDO:0009262 Tags
Green List (high evidence)	GLB1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GM1-gangliosidosis, type I, MIM# 230500 GM1-gangliosidosis, type II, MIM# 230600 Tags
Green List (high evidence)	GLB1 Lysosomal Storage Disorder v1.13	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)	GLB1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes GM1-gangliosidosis, type III, MIM#230650 white matter abnormality Tags
Green List (high evidence)	GLDC Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glycine encephalopathy (MIM#605899) Tags
Green List (high evidence)	GLDC Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Green List (high evidence)	GLI3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Pallister-Hall syndrome, MIM# 146510 Tags
Green List (high evidence)	GLRA1 Neurotransmitter Defects v1.7	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)	GLRA1 Brain Channelopathies v1.3	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 Genetic Epilepsy v1.108	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 Expert Review Phenotypes Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Tags
Green List (high evidence)	GLRB Neurotransmitter Defects v1.7	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)	GLRB Brain Channelopathies v1.3	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 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spasticity, childhood-onset, with hyperglycinemia 616859 Tags
Green List (high evidence)	GLRX5 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 616860 Anemia, sideroblastic, 3, pyridoxine-refractory Sideroblastic anaemia - increased serum ferritin Tags
Green List (high evidence)	GLRX5 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	GLRX5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spasticity, childhood-onset, with hyperglycinemia 616859 Tags
Green List (high evidence)	GLS Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Developmental and epileptic encephalopathy 71 MIM#618328 Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 disorder of amino acid metabolism Tags
Green List (high evidence)	GLS Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 71, MIM# 618328 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 Tags
Green List (high evidence)	GLUD1 Fatty Acid Oxidation Defects v1.14	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)	GLUD1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Tags
Green List (high evidence)	GLUL Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green List (high evidence)	GLUL Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green List (high evidence)	GLYCTK Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes D-glyceric aciduria MIM#220120 Disorders of serine, glycine or glycerate metabolism Tags
Green List (high evidence)	GLYCTK Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes D-glyceric aciduria, MIM# 220120 Tags
Green List (high evidence)	GM2A Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GM2-gangliosidosis, AB variant, MIM# 272750 Tags
Green List (high evidence)	GM2A Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GM2-gangliosidosis, AB variant, MIM#272750 Tags
Green List (high evidence)	GM2A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes GM2-gangliosidosis, AB variant MIM#272750 Tags
Green List (high evidence)	GMPPA Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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, 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)	GMPPB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Green List (high evidence)	GMPPB Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352 Limb myalgia exercise intolerance myoglobinuria Tags
Green List (high evidence)	GMPPB Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Tags
Green List (high evidence)	GNAI1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Tags
Green List (high evidence)	GNAL Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 25, MIM# 615073 MONDO:0014033 Tags
Green List (high evidence)	GNAO1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 17 Neurodevelopmental disorder with involuntary movements Tags
Green List (high evidence)	GNAO1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 Tags
Green List (high evidence)	GNAQ Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Tags somatic
Green List (high evidence)	GNAS Brain Calcification v1.99	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert list Phenotypes Pseudohypoparathyroidism Ib, MIM# 603233 Tags
Green List (high evidence)	GNB1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mental retardation, autosomal dominant 42, MIM# 616973 Myoclonus dystonia Tags
Green List (high evidence)	GNB1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Tags
Green List (high evidence)	GNB4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185 MONDO:0014074 HMSN Tags
Green List (high evidence)	GNB5 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Nonaka myopathy (MIM#605820) Tags
Green List (high evidence)	GNE Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nonaka myopathy 605820 Sialuria MIM#269921 ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	GNE Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nonaka myopathy, MIM# 605820 Tags
Green List (high evidence)	GNMT Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycine N-methyltransferase deficiency MIM#606664 Disorders of the metabolism of sulphur amino acids Tags
Green List (high evidence)	GNPAT Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GNPTAB Lysosomal Storage Disorder v1.13	1 review 1 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 Lysosomal Storage Disorder v1.13	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)	GNS Lysosomal Storage Disorder v1.13	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)	GORAB Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Geroderma osteodysplasticum MIM#231070 Tags
Green List (high evidence)	GOSR2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018 Tags
Green List (high evidence)	GOSR2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 6 , MIM#614018 Tags
Green List (high evidence)	GOT2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 82, MIM# 618721 Tags
Green List (high evidence)	GPAA1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green List (high evidence)	GPAA1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Royal Melbourne Hospital Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green List (high evidence)	GPAA1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green List (high evidence)	GPD1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypertriglyceridemia, transient infantile MIM#614480 glycerol-3-phosphate dehydrogenase deficiency Tags
Green List (high evidence)	GPD1 Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial shuttles and carriers transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 Tags
Green List (high evidence)	GPHN Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212 Tags
Green List (high evidence)	GPHN Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency C MIM#615501 Disorders of molybdenum cofactor metabolism Tags
Green List (high evidence)	GPHN Genetic Epilepsy v1.108	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Molybdenum cofactor deficiency C, MIM# 615501 Epilepsy Autism Intellectual disability Tags SV/CNV
Green List (high evidence)	GPRC5B Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
Green List (high evidence)	GPRC5B Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
Green List (high evidence)	GPT2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green List (high evidence)	GPT2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green List (high evidence)	GRIA2 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	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 Expert Review Phenotypes Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Tags
Green List (high evidence)	GRIA3 Neurotransmitter Defects v1.7	0 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 Green Phenotypes Glutamate neurotransmitter disorders X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green List (high evidence)	GRIA4 Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641 Tags
Green List (high evidence)	GRIA4 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Tags
Green List (high evidence)	GRID2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green List (high evidence)	GRIK2 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	GRIN1 Dystonia - complex v0.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 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)	GRIN1 Neurotransmitter Defects v1.7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	GRIN2A Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	GRIN2A Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Tags
Green List (high evidence)	GRIN2B Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139 Tags
Green List (high evidence)	GRIN2B Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	GRIN2D Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	GRIN2D Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 46, MIM# 617162 intellectual disability Tags
Green List (high evidence)	GRM1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 13 Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 Tags
Green List (high evidence)	GRM1 Neurotransmitter Defects v1.7	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia MONDO:0000437 Glutamate neurotransmitter disorders Tags
Green List (high evidence)	GRM7 Genetic Epilepsy v1.108	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)	GRN Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 11 614706 Tags
Green List (high evidence)	GRN Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485 Tags
Green List (high evidence)	GRN Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Tags
Green List (high evidence)	GRN Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485 Tags
Green List (high evidence)	GRN Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Tags
Green List (high evidence)	GRN Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Tags
Green List (high evidence)	GRN Lysosomal Storage Disorder v1.13	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes neuronal ceroid lipofuscinosis MONDO:0016295 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Tags
Green List (high evidence)	GSN Hereditary Neuropathy - complex v1.19	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyloidosis, Finnish type MIM#105120 Tags
Green List (high evidence)	GSS Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glutathione synthetase deficiency, MIM# 266130 Tags
Green List (high evidence)	GSS Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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)	GSS Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Gluthathione synthetase deficiency, MIM# 266130 Tags
Green List (high evidence)	GTF3C3 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Tags
Green List (high evidence)	GTPBP2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green List (high evidence)	GTPBP2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green List (high evidence)	GTPBP3 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green List (high evidence)	GTPBP3 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green List (high evidence)	GUCY1A3 Cerebral vascular malformations v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Moyamoya 6 with achalasia Moyamoya 6 with achalasia, 615750 Tags
Green List (high evidence)	GUK1 Mitochondrial disease v0.969	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)	GUK1 Rhabdomyolysis and Metabolic Myopathy v1.20	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 Lysosomal Storage Disorder v1.13	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 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green List (high evidence)	GYG1 Glycogen Storage Diseases v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XV, MIM# 613507 Polyglucosan body myopathy 2, MIM# 616199 Tags
Green List (high evidence)	GYG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Glycogen Storage Diseases v1.2	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)	GYS1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, muscle 611556 Tags
Green List (high evidence)	GYS2 Glycogen Storage Diseases v1.2	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)	H3F3A Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability regression seizures Tags
Green List (high evidence)	H3F3B Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability regression seizures Tags
Green List (high evidence)	HAAO Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660 NAD deficiency Tags
Green List (high evidence)	HACE1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Tags
Green List (high evidence)	HACE1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Spastic paraplegia psychomotor retardation Tags
Green List (high evidence)	HADH Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Tags
Green List (high evidence)	HADH Fatty Acid Oxidation Defects v1.14	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 SCHAD deficiency, MONDO:0009278 Tags
Green List (high evidence)	HADHA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHA Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHA Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHA Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LCHAD deficiency, MIM# 609016 Tags treatable
Green List (high evidence)	HADHB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHB Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHB Fatty Acid Oxidation Defects v1.14	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 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 613313 Hemochromatosis, type 2B 613313 HEMOCHROMATOSIS, TYPE 2B HFE2B Tags
Green List (high evidence)	HARS Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 MONDO:0014711 HMSN Tags new gene name
Green List (high evidence)	HARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Green List (high evidence)	HAX1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green List (high evidence)	HCCS Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HCFC1 Genetic Epilepsy v1.108	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Tags
Green List (high evidence)	HCN1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 24, MIM# 615871 Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Tags
Green List (high evidence)	HCN2 Genetic Epilepsy v1.108	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Febrile seizures, familial, 2, MIM# 602477 Genetic epilepsy with febrile seizures plus Other seizure disorders Tags
Green List (high evidence)	HD STR Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Huntington disease MIM#143100 Tags STR
Green List (high evidence)	HDAC3 Genetic Epilepsy v1.108	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)	HDL2 STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Huntington disease-like 2 MIM#606438 Tags STR
Green List (high evidence)	HECTD1 Genetic Epilepsy v1.108	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)	HECW2 Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268 intellectual disability epilepsy regression microcephaly Tags
Green List (high evidence)	HEPACAM Leukodystrophy - paediatric v0.318	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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)	HEPACAM Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship 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)	HEPACAM Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 Tags
Green List (high evidence)	HERC2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 38 (MIM 615516) Tags
Green List (high evidence)	HEXA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 Tags
Green List (high evidence)	HEXA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease Tags
Green List (high evidence)	HEXA Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, several forms, MIM# 272800 Tay-Sachs disease, MIM# 272800 MONDO:0010100 Tags
Green List (high evidence)	HEXA Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green List (high evidence)	HEXA Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800 Tags
Green List (high evidence)	HEXA Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 Tags
Green List (high evidence)	HEXA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Tay-Sachs disease, MIM# 272800 Tags
Green List (high evidence)	HEXB Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms MIM#268800 Tags
Green List (high evidence)	HEXB Lysosomal Storage Disorder v1.13	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)	HEXB Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease Tags
Green List (high evidence)	HEXB Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Sandhoff disease, 268800 Tags
Green List (high evidence)	HEXB Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006 Tags
Green List (high evidence)	HFE Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 235200 Hemochromatosis 235200 HEMOCHROMATOSIS, TYPE 1 235200HEMOCHROMATOSIS, TYPE 1 HFE1 Tags
Green List (high evidence)	HFE2 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes HFE2A 602390 HEMOCHROMATOSIS, TYPE 2A 602390 Hemochromatosis, type 2A Tags
Green List (high evidence)	HGD Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Alkaptonuria MIM#203500 Disorders of phenylalanine or tyrosine metabolism Tags
Green List (high evidence)	HGSNAT Lysosomal Storage Disorder v1.13	1 review 1 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)	HIBCH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green List (high evidence)	HIBCH Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HID1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Tags
Green List (high evidence)	HIKESHI Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 13, MIM#616881 Tags
Green List (high evidence)	HINT1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646 HMSN, dHMN/dSMA Tags
Green List (high evidence)	HIVEP2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder, autosomal dominant 43, MIM# 616977 Tags
Green List (high evidence)	HK1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Neuropathy, hereditary motor and sensory, Russe type, 605285 Tags 5'UTR founder
Green List (high evidence)	HLCS Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green List (high evidence)	HLCS Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green List (high evidence)	HMBS Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Porphyria, acute intermittent MIM#176000 Tags
Green List (high evidence)	HMBS Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, porphyria-related, MIM# 620711 Tags
Green List (high evidence)	HMBS Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute intermittent MIM#176000 MONDO:0008294 Tags
Green List (high evidence)	HMGCL Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency MIM#246450 Tags treatable
Green List (high evidence)	HMGCL Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags treatable
Green List (high evidence)	HMGCL Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMG-CoA lyase deficiency, 246450 Tags treatable
Green List (high evidence)	HMGCL Fatty Acid Oxidation Defects v1.14	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Tags
Green List (high evidence)	HMGCS2 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes HMG-CoA synthase-2 deficiency MIM#605911 Tags
Green List (high evidence)	HMGCS2 Fatty Acid Oxidation Defects v1.14	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)	HNRNPA1 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Green List (high evidence)	HNRNPA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 3, MIM# 610099 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Tags
Green List (high evidence)	HNRNPA2B1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Royal Melbourne Hospital Phenotypes oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Tags
Green List (high evidence)	HNRNPDL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1G 609115 Tags
Green List (high evidence)	HNRNPH2 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green List (high evidence)	HNRNPR Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Tags
Green List (high evidence)	HNRNPU Genetic Epilepsy v1.108	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 54 MIM# 617391 Tags
Green List (high evidence)	HPCA Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 MONDO:0009141 childhood-onset generalized dystonia adolescence-onset segmental dystonia generalized dystonia with additional neurological features Tags
Green List (high evidence)	HPD Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hawkinsinuria MIM#140350 Tyrosinemia, type III MIM#276710 Disorders of phenylalanine or tyrosine metabolism Tags
Green List (high evidence)	HPDL Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green List (high evidence)	HPDL Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green List (high evidence)	HPDL Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green List (high evidence)	HPDL Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green List (high evidence)	HPRT1 Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Lesch-Nyhan syndrome Dystonia Tags
Green List (high evidence)	HPS1 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 Tags
Green List (high evidence)	HRAS Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Costello syndrome, MIM# 218040 Tags
Green List (high evidence)	HS2ST1 Miscellaneous Metabolic Disorders v1.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Developmental delay and corpus callosum, skeletal, and renal abnormalities disorder of glycosaminoglycan metabolism Tags
Green List (high evidence)	HSD17B10 Fatty Acid Oxidation Defects v1.14	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)	HSD17B10 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HSD17B4 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green List (high evidence)	HSD17B4 Peroxisomal Disorders v0.54	1 review 1 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)	HSD17B4 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome-Associated Disorders & Zellweger Syndrome D-bifunctional protein deficiency Tags
Green List (high evidence)	HSD3B7 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bile acid synthesis defect, congenital, 1 MIM#607765 Disorders of bile acid biosynthesis Tags
Green List (high evidence)	HSPA9 Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes even-plus syndrome MONDO:0014801 Disorders of mitochondrial protein quality control Tags
Green List (high evidence)	HSPB1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, axonal, type 2F, 606595 MONDO:0011687 HMSN, dHMN/dSMA Neuropathy, distal hereditary motor, type IIB, 608634 MONDO:0012080 Tags
Green List (high evidence)	HSPB8 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Neuropathy, distal hereditary motor, type IIA, 158590 Charcot Marie Tooth disease, axonal, type 2L, 608673 Tags
Green List (high evidence)	HSPB8 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Tags
Green List (high evidence)	HSPD1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HSPD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 4, MIM# 612233 Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Green List (high evidence)	HSPD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233 Tags
Green List (high evidence)	HSPD1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, MIM# 612233 Tags
Green List (high evidence)	HTRA1 Early-onset Dementia v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes CARASIL syndrome MIM#600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779 Tags
Green List (high evidence)	HTRA1 Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 CARASIL syndrome, 600142 Tags
Green List (high evidence)	HTRA2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green List (high evidence)	HTRA2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green List (high evidence)	HTRA2 Dystonia - complex v0.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria type 8 MONDO:0044723 Tags
Green List (high evidence)	IARS2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IARS2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Tags
Green List (high evidence)	IBA57 Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Tags
Green List (high evidence)	IBA57 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330 Tags
Green List (high evidence)	IBA57 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 74, autosomal recessive MIM#616451 Tags
Green List (high evidence)	IDH2 Mitochondrial disease v0.969	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria 2 MIM#613657 Tags
Green List (high evidence)	IDH2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria 2, MIM# 613657 Tags
Green List (high evidence)	IDH3A Mitochondrial disease v0.969	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)	IDS Lysosomal Storage Disorder v1.13	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 treatable
Green List (high evidence)	IDUA Lysosomal Storage Disorder v1.13	1 review 1 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# 607016 Mucopolysaccharidosis type 1, MONDO:0001586 Tags
Green List (high evidence)	IER3IP1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green List (high evidence)	IFIH1 Brain Calcification v1.99	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846 Tags
Green List (high evidence)	IFIH1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green List (high evidence)	IFIH1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846 Tags
Green List (high evidence)	IFIH1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green List (high evidence)	IGHMBP2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN, dHMN/dSMA Charcot-Marie-Tooth disease, axonal, type 2S 616155 Neuronopathy, distal hereditary motor, type VI, 604320 Tags
Green List (high evidence)	IKBKG Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Incontinentia pigmenti, MIM# 308300 Tags
Green List (high evidence)	IMPDH2 Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dystonia Tags
Green List (high evidence)	INF2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, dominant intermediate E, 614455 HMSN Tags
Green List (high evidence)	INPP4A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes INPP4A-related neurodevelopmental disorder Tags
Green List (high evidence)	INPP4A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes INPP4A-related neurodevelopmental disorder Tags
Green List (high evidence)	INPP5E Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1 Tags
Green List (high evidence)	IQSEC2 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship 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)	IRF2BPL Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 Tags
Green List (high evidence)	IRF2BPL Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 Tags
Green List (high evidence)	IRF2BPL Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 Tags
Green List (high evidence)	ISCA1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green List (high evidence)	ISCA1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 5 MIM#617613 Tags
Green List (high evidence)	ISCA1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green List (high evidence)	ISCA2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Tags
Green List (high evidence)	ISCA2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags
Green List (high evidence)	ISCU Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ISCU Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags
Green List (high evidence)	ISG15 Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 38 with BG calcification, MIM# 616126 Tags
Green List (high evidence)	ISPD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags
Green List (high evidence)	ISPD Congenital Disorders of Glycosylation v1.58	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, 7 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Tags
Green List (high evidence)	ISPD Genetic Epilepsy v1.108	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Tags
Green List (high evidence)	ITM2B Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebral amyloid angiopathy MONDO:0005620 Tags
Green List (high evidence)	ITM2B Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia, cataract, deafness, and dementia or psychosis Danish familial dementia Tags
Green List (high evidence)	ITPA Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 35, MIM# 616647 Tags
Green List (high evidence)	ITPA Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Inosine triphosphatase deficiency MIM#613850 Developmental and epileptic encephalopathy 35 MIM#616647 Disorders of purine metabolism Tags
Green List (high evidence)	ITPR1 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, 206700 Spinocerebellar ataxia 29 Spinocerebellar ataxia 29, 117360 Spinocerebellar ataxia 15 Spinocerebellar ataxia 15, 606658 Tags
Green List (high evidence)	ITPR1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green List (high evidence)	ITPR3 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111 Tags
Green List (high evidence)	JAG1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Peripheral neuropathy Tags
Green List (high evidence)	JAG2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456 Tags
Green List (high evidence)	JAM2 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary brain calcification Tags
Green List (high evidence)	JAM3 Brain Calcification v1.99	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)	KANSL1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Koolen-De Vries syndrome MIM#610443 Tags
Green List (high evidence)	KARS Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KARS Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Tags
Green List (high evidence)	KARS Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147 Tags
Green List (high evidence)	KAT5 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature 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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Arboleda-Tham syndrome MIM#616268 Tags
Green List (high evidence)	KAT8 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lissencephaly 6, with microcephaly MIM#616212 Tags
Green List (high evidence)	KCNA1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Episodic ataxia/myokymia syndrome, 160120 Episodic ataxia/myokymia syndrome Tags
Green List (high evidence)	KCNA1 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia/myokymia syndrome, MIM# 160120 Tags
Green List (high evidence)	KCNA1 Genetic Epilepsy v1.108	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Epilepsy seizures epileptic encephalopathies episodic ataxia type 1 and epilepsy Tags
Green List (high evidence)	KCNA2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Early infantile encephalopathy 32, MIM#616366 Tags
Green List (high evidence)	KCNA2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia and ataxia Tags
Green List (high evidence)	KCNA2 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 32, 616366 Tags
Green List (high evidence)	KCNA3 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 26, MIM# 616056 Tags
Green List (high evidence)	KCNC1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, progressive myoclonic 7 (MIM#616187) Intellectual disability Movement disorders Tags
Green List (high evidence)	KCNC2 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 103, MIM# 619913 Tags
Green List (high evidence)	KCNC3 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13 MIM#605259 Tags
Green List (high evidence)	KCNC3 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13 Spinocerebellar ataxia 13, 605259 Tags
Green List (high evidence)	KCND1 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 global developmental delay, HP:0001263 seizure, HP:0001250 Tags
Green List (high evidence)	KCND3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Spinocerebellar ataxia 19, MIM#607346 Tags
Green List (high evidence)	KCND3 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green List (high evidence)	KCND3 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green List (high evidence)	KCNH1 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature 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 Genetic Epilepsy v1.108	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)	KCNJ10 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes SESAME syndrome, MIM# 612780 Tags
Green List (high evidence)	KCNJ10 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome SESAME syndrome, 612780 Tags
Green List (high evidence)	KCNJ10 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780 Disorders of magnesium metabolism Tags
Green List (high evidence)	KCNJ11 Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Tags
Green List (high evidence)	KCNJ2 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Andersen syndrome, MIM# 170390 Tags
Green List (high evidence)	KCNK4 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 Tags
Green List (high evidence)	KCNMA1 Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	KCNMA1 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Tags
Green List (high evidence)	KCNMA1 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446 Tags
Green List (high evidence)	KCNN2 Ataxia - paediatric v1.30	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)	KCNN2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green List (high evidence)	KCNN2 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 34, myoclonic, MIM#619724 Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green List (high evidence)	KCNQ2 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myokymia, MIM# 121200 Seizures, benign neonatal, 1, MIM# 121200 Developmental and epileptic encephalopathy 7, MIM# 613720 Tags
Green List (high evidence)	KCNQ2 Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 7, 613720 Seizures, benign neonatal, 1, 121200 Tags
Green List (high evidence)	KCNQ3 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Seizures, benign neonatal, 2, MIM# 121201 Tags
Green List (high evidence)	KCNQ3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Seizures, benign neonatal, 2, MIM# 121201 Tags
Green List (high evidence)	KCNQ5 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 46, MIM# 617601 Tags
Green List (high evidence)	KCNT1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, nocturnal frontal lobe, 5, MIM# 615005 Epileptic encephalopathy, early infantile, 14, MIM# 614959 Tags
Green List (high evidence)	KCNT2 Genetic Epilepsy v1.108	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 57, MIM#617771 Developmental and epileptic encephalopathy Tags
Green List (high evidence)	KCTD17 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 26, myoclonic MIM#616398 Tags
Green List (high evidence)	KCTD3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy Intellectual disability Posterior fossa abnormalities Tags
Green List (high evidence)	KCTD7 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR Tags
Green List (high evidence)	KCTD7 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive myoclonus epilepsy MONDO:0020074 Neuronal ceroid lipofuscinosis Tags
Green List (high evidence)	KDM4B Genetic Epilepsy v1.108	2 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)	KDM5C Genetic Epilepsy v1.108	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 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green List (high evidence)	KDM5C Hereditary Spastic Paraplegia - paediatric v1.86	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 Royal Melbourne Hospital Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green List (high evidence)	KIAA0391 Mitochondrial disease v0.969	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)	KIAA1109 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes lkuraya-Kucinskas syndrome, MIM# 617822 Tags
Green List (high evidence)	KIAA1161 Brain Calcification v1.99	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Basal ganglia calcification, idiopathic, 7, MIM#618317 Tags new gene name
Green List (high evidence)	KIAA1161 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317 Primary familial brain calcification Atypical parkinsonism Supranuclear gaze palsy Tags new gene name
Green List (high evidence)	KIDINS220 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 MONDO:0015007 Tags
Green List (high evidence)	KIF1A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 30, autosomal dominant MIM# 610357 Spastic paraplegia 30, autosomal recessive 620607 Tags
Green List (high evidence)	KIF1A Pain syndromes v0.34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory, type IIC, 614213 Tags
Green List (high evidence)	KIF1A Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes NESCAV syndrome, MIM# 614255 Tags
Green List (high evidence)	KIF1A Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia spastic paraplegia intellectual disability Tags
Green List (high evidence)	KIF1A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory, type IIC, 614213 Tags
Green List (high evidence)	KIF1A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 30, autosomal dominant MIM# 610357 Spastic paraplegia 30, autosomal recessive 620607 Tags
Green List (high evidence)	KIF1C Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia 2, autosomal recessive MIM#611302 Tags
Green List (high evidence)	KIF1C Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic ataxia 2,autosomal recessive Autosomal recessive spastic ataxia 2, 611302 Tags
Green List (high evidence)	KIF1C Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 2, autosomal recessive, 611302 Spastic ataxia 2, autosomal recessive Tags
Green List (high evidence)	KIF2A Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Tags
Green List (high evidence)	KIF5A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 10, autosomal dominant, MIM# 604187 Tags
Green List (high evidence)	KIF5A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary Neuropathies HMSN Tags
Green List (high evidence)	KIF5A Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myoclonus, intractable, neonatal MIM#617235 Tags
Green List (high evidence)	KIF5A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 10, autosomal dominant, MIM# 604187 Tags
Green List (high evidence)	KIF5A Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921 Tags
Green List (high evidence)	KIF5A Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myoclonus, intractable, neonatal, MIM#617235 Tags
Green List (high evidence)	KIF5C Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Tags
Green List (high evidence)	KIF7 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Koubert syndrome 12 Acrocallosal syndrome, Schinzel type Tags
Green List (high evidence)	KLC2 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 Tags SV/CNV
Green List (high evidence)	KLC2 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Tags SV/CNV
Green List (high evidence)	KLHL20 Genetic Epilepsy v1.108	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)	KMT2A Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Wiedemann-Steiner syndrome MIM#605130 Tags
Green List (high evidence)	KMT2B Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset , MIM#617284 Tags
Green List (high evidence)	KMT2B Dystonia - isolated/combined v1.37	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes early-onset dystonia Dystonia 28, childhood-onset 617284 MONDO:0015004 Tags
Green List (high evidence)	KMT2C Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kleefstra syndrome 2, MIM# 617768 Tags
Green List (high evidence)	KMT2D Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kabuki syndrome 1 MIM#147920 Tags
Green List (high evidence)	KMT2E Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes O'Donnell-Luria-Rodan syndrome, MIM# 618512 Intellectual disability Autism Seizures Tags
Green List (high evidence)	KPNA3 Hereditary Spastic Paraplegia - paediatric v1.86	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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal recessive 4, MIM#1615637 Tags
Green List (high evidence)	KRAS Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Oculoectodermal syndrome, somatic MIM#600268 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200 Tags somatic
Green List (high evidence)	KRIT1 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp 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)	KRIT1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860 Cavernous malformations of CNS and retina MIM#116860 Cerebral cavernous malformations-1 MIM#116860 Tags
Green List (high evidence)	KY Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Myopathy, myofibrillar, 7 (MIM#617114) Tags
Green List (high evidence)	KYNU Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hereditary spastic paraplegia, 308840 MASA syndrome, 303350 X-linked hydrocephalus, 307000 Tags
Green List (high evidence)	L2HGDH Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes L-2-hydroxyglutaric aciduria, MIM# 236792 Tags
Green List (high evidence)	L2HGDH Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green List (high evidence)	L2HGDH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 organic acidurias Tags
Green List (high evidence)	L2HGDH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 Tags
Green List (high evidence)	L2HGDH Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial metabolite repair L-2-hydroxyglutaric aciduria MONDO:0009370 Tags
Green List (high evidence)	L2HGDH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 Tags
Green List (high evidence)	LAMA1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Poretti-Boltshauser syndrome Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Tags
Green List (high evidence)	LAMA2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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)	LAMA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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)	LAMB1 Leukodystrophy - adult onset v0.143	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukodystrophy, MONDO:0019046, LAMB1-related Retinal Vascular Abnormality mild intellectual disability white matter lesions lower limb spasticity Tags
Green List (high evidence)	LAMC3 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Cortical malformations, occipital, MIM#614115 Tags
Green List (high evidence)	LAMP2 Glycogen Storage Diseases v1.2	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 Tags
Green List (high evidence)	LAMP2 Lysosomal Storage Disorder v1.13	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)	LAMP2 Rhabdomyolysis and Metabolic Myopathy v1.20	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 Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Danon disease, MIM# 300257 MONDO:0010281 Tags
Green List (high evidence)	LARGE1 Congenital Disorders of Glycosylation v1.58	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, 6 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Tags
Green List (high evidence)	LARS Genetic Epilepsy v1.108	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Literature Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Seizures Intellectual disability Encephalopathy Tags new gene name
Green List (high evidence)	LARS Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile liver failure syndrome 1 MIM#615438 disorder of leucine metabolism Tags
Green List (high evidence)	LARS2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy Tags
Green List (high evidence)	LARS2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LARS2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy Tags
Green List (high evidence)	LBR Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Greenberg skeletal dysplasia MIM#215140 Disorders of sterol biosynthesis Tags
Green List (high evidence)	LCT Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Lactase deficiency, congenital MIM#223000 Other carbohydrate disorders Tags
Green List (high evidence)	LDB3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Phenotypes myofibrillar myopathy 4 MONDO:0012277 Tags
Green List (high evidence)	LDHA Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XI, MIM# 612933 Tags
Green List (high evidence)	LDHA Glycogen Storage Diseases v1.2	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)	LETM1 Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green List (high evidence)	LETM1 Mitochondrial disease v0.969	2 reviews 2 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)	LETM1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green List (high evidence)	LFNG Congenital Disorders of Glycosylation v1.58	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 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, familial temporal lobe, 1, MIM# 6000512 Tags
Green List (high evidence)	LIAS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 Tags
Green List (high evidence)	LIAS Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	LIG3 Genetic Epilepsy v1.108	2 reviews 2 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)	LIG3 Mitochondrial disease v0.969	2 reviews 2 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)	LIG3 Leukodystrophy - adult onset v0.143	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)	LIG3 Leukodystrophy - paediatric v0.318	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)	LIPA Lysosomal Storage Disorder v1.13	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)	LIPT1 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Leigh-like presentation Tags
Green List (high evidence)	LIPT2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Tags
Green List (high evidence)	LIPT2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LITAF Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 1C, MIM# 601098 MONDO:0010995 Tags
Green List (high evidence)	LMBRD2 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)	LMNA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Tags
Green List (high evidence)	LMNB1 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukodystrophy, adult-onset, autosomal dominant MIM#169500 Tags SV/CNV
Green List (high evidence)	LMNB1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500 Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061 Tags SV/CNV
Green List (high evidence)	LNPK Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Tags
Green List (high evidence)	LONP1 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes CODAS syndrome, MIM#600373 Mitochondrial cytopathy Tags
Green List (high evidence)	LPIN1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green List (high evidence)	LPIN1 Fatty Acid Oxidation Defects v1.14	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)	LRP12-ALS_CGG STR Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Amyotrophic lateral sclerosis MONDO:0004976 Amyotrophic lateral sclerosis 28, MIM# 620452 Tags
Green List (high evidence)	LRPPRC Mitochondrial disease v0.969	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LRRK2 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LRRK2 Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LRSAM1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436 MONDO:0013753 HMSN Tags
Green List (high evidence)	LSS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alopecia-intellectual disability syndrome 4, MIM#618840 Tags
Green List (high evidence)	LYRM7 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes 615838 Mitochondrial complex III deficiency, nuclear type 8 leukoencephalopathy and complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle Tags
Green List (high evidence)	LYRM7 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	LYST Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Chediak-Higashi syndrome MONDO:0008963 Tags
Green List (high evidence)	LYST Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Chediak-Higashi syndrome MIM#214500 MONDO:0008963 Tags
Green List (high evidence)	MACF1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Lissencephaly 9 with complex brainstem malformation, MIM# 618325 Tags
Green List (high evidence)	MADD Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Ayme-Gripp syndrome (MIM#601088) Tags
Green List (high evidence)	MAG Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 75, autosomal recessive, MIM# 616680 Cerebellar ataxia Oculomotor apraxia Tags
Green List (high evidence)	MAG Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 75, autosomal recessive, 616680 Cerebellar ataxia Tags
Green List (high evidence)	MAGT1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature 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)	MAN1B1 Congenital Disorders of Glycosylation v1.58	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 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mannosidosis, alpha-, types I and II, MIM#248500 Tags
Green List (high evidence)	MAN2B1 Lysosomal Storage Disorder v1.13	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)	MAN2B1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Alpha-mannosidosis MONDO:0009561 Tags
Green List (high evidence)	MANBA Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, beta, MIM# 248510 MONDO:0009562 Tags
Green List (high evidence)	MAOA Neurotransmitter Defects v1.7	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 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures PVNH dysmorphic features Periventricular nodular heterotopia 9, MIM# 618918 Tags
Green List (high evidence)	MAP2K1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green List (high evidence)	MAP2K2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Green List (high evidence)	MAPK8IP3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities 618443 Tags
Green List (high evidence)	MAPT Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes late-onset Parkinson disease MONDO:0008199 Tags
Green List (high evidence)	MAPT Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Supranuclear palsy, progressive (MIM# 601104) AD Supranuclear palsy, progressive atypical (MIM# 260540) AR Tags
Green List (high evidence)	MAPT Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes semantic dementia MONDO:0010857 Tags
Green List (high evidence)	MARK2 Genetic Epilepsy v1.108	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)	MARS2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green List (high evidence)	MARS2 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green List (high evidence)	MARS2 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green List (high evidence)	MARS2 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive, 611390 Tags SV/CNV
Green List (high evidence)	MAST1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations OMIM #618273 Tags
Green List (high evidence)	MAST3 Genetic Epilepsy v1.108	2 reviews 2 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 Genetic Epilepsy v1.108	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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)	MATR3 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	MATR3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes distal myopathy with vocal cord weakness MONDO:0018951 Tags
Green List (high evidence)	MB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Myopathy, sarcoplasmic body MIM#620286 Tags
Green List (high evidence)	MBD5 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 1, MIM# 156200 MONDO:0007974 Tags SV/CNV
Green List (high evidence)	MBOAT7 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes intellectual disability MIM#617188 Tags
Green List (high evidence)	MCCC1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Organic acidurias Tags
Green List (high evidence)	MCCC2 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Organic acidurias Tags
Green List (high evidence)	MCEE Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Methylmalonyl-CoA epimerase deficiency MIM#251120 Organic acidurias Tags
Green List (high evidence)	MCM3AP Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green List (high evidence)	MCOLN1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mucolipidosis IV, MIM# 252650 Tags
Green List (high evidence)	MCOLN1 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags SV/CNV
Green List (high evidence)	MDH2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	MDH2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green List (high evidence)	MECP2 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship 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)	MECP2 Early-onset Parkinson disease v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 Tags
Green List (high evidence)	MECR Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green List (high evidence)	MECR Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green List (high evidence)	MECR Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green List (high evidence)	MED11 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ohdo syndrome, X-linked MIM#300895 Lujan-Fryns syndrome MIM#309520 Opitz-Kaveggia syndrome MIM#305450 Tags
Green List (high evidence)	MED13L Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789 Tags
Green List (high evidence)	MED17 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green List (high evidence)	MED27 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 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)	MED27 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability cerebellar hypoplasia dystonia Tags
Green List (high evidence)	MED27 Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MIM#619286 Tags
Green List (high evidence)	MEF2C Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 Tags
Green List (high evidence)	MEF2C Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags 5'UTR SV/CNV
Green List (high evidence)	MFF Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MFF Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green List (high evidence)	MFN2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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 Tags
Green List (high evidence)	MFN2 Mitochondrial disease v0.969	2 reviews 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MFSD8 Lysosomal Storage Disorder v1.13	1 review 1 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)	MFSD8 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 7 610951 Tags
Green List (high evidence)	MGAT2 Congenital Disorders of Glycosylation v1.58	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 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial DNA depletion syndrome 11, MIM# 615084 Tags
Green List (high evidence)	MGME1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes mitochondrial DNA depletion syndrome 11 MONDO:0014039 Tags
Green List (high evidence)	MICU1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green List (high evidence)	MINPP1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia, type 16, MIM# 619527 Tags
Green List (high evidence)	MIPEP Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 31, MIM# 617228 Tags
Green List (high evidence)	MKS1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 28 Tags
Green List (high evidence)	MLC1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004 Tags
Green List (high evidence)	MLC1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Tags
Green List (high evidence)	MLIP Rhabdomyolysis and Metabolic Myopathy v1.20	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)	MLYCD Fatty Acid Oxidation Defects v1.14	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)	MMACHC Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 Methylmalonic aciduria and homocystinuria, cblC type, 277400 Ataxia and hypogonadism Tags treatable
Green List (high evidence)	MMACHC Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags treatable
Green List (high evidence)	MMADHC Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Tags treatable
Green List (high evidence)	MME Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital GeneReviews Phenotypes Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017 MONDO:0014866 Tags
Green List (high evidence)	MOCOS Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism xanthinuria type II MONDO:0011346 Tags
Green List (high evidence)	MOCS1 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643 Tags
Green List (high evidence)	MOCS1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency A MIM#252150 Disorders of molybdenum cofactor metabolism Tags treatable
Green List (high evidence)	MOCS1 Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green List (high evidence)	MOCS2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Molybdenum cofactor deficiency B MIM#252160 Tags
Green List (high evidence)	MOCS2 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency B MIM#252160 Disorders of molybdenum cofactor metabolism Tags
Green List (high evidence)	MOCS2 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644 Disorders of molybdenum cofactor metabolism Tags
Green List (high evidence)	MOGS Congenital Disorders of Glycosylation v1.58	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green List (high evidence)	MOGS Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green List (high evidence)	MORC2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688 MONDO:0014736 Tags
Green List (high evidence)	MORC2 Mitochondrial disease v0.969	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688. Tags
Green List (high evidence)	MORC2 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Axonal type CMT disease type 2Z, 616688 Cerebellar ataxia Tags
Green List (high evidence)	MORC2 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green List (high evidence)	MPC1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial pyruvate carrier deficiency, MIM# 614741 Tags
Green List (high evidence)	MPDU1 Congenital Disorders of Glycosylation v1.58	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)	MPDU1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green List (high evidence)	MPI Congenital Disorders of Glycosylation v1.58	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)	MPV17 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Tags
Green List (high evidence)	MPV17 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MPZ Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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)	MRE11 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-Telangiectasia-Like Disorder Ataxia-telangiectasia-like disorder 1, 604391 Tags
Green List (high evidence)	MRM2 Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 9 OMIM #614582 Tags
Green List (high evidence)	MRPL39 Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 16, MIM# 615395 Tags
Green List (high evidence)	MRPL49 Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 36, MIM# 617950 Tags
Green List (high evidence)	MRPS22 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 5, MIM# 611719 Tags
Green List (high evidence)	MRPS23 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Hepatic disease Combined respiratory chain complex deficiencies Cardiomyopathy Tubulopathy Lactic acidosis Structural brain abnormalities Combined oxidative phosphorylation deficiency 46, MIM618952 Tags
Green List (high evidence)	MRPS34 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 32, MIM# 617664 Tags
Green List (high evidence)	MRUPAV STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 Tags
Green List (high evidence)	MSMO1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Disorders of the metabolism of sterols MONDO:0014793 Tags
Green List (high evidence)	MSTO1 Ataxia - adult onset v1.18	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy and ataxia, 617675 Tags
Green List (high evidence)	MSTO1 Ataxia - paediatric v1.30	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green List (high evidence)	MSTO1 Mitochondrial disease v0.969	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Myopathy, mitochondrial, and ataxia, MIM# 617675 Tags
Green List (high evidence)	MT-ATP6 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency Tags mtDNA
Green List (high evidence)	MT-ATP8 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency Tags mtDNA
Green List (high evidence)	MT-CO1 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Leber's optic atrophy Sideroblastic anaemia Cytochrome c oxidase deficiency Myoglobinuria Tags mtDNA
Green List (high evidence)	MT-CO2 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Cytochrome c oxidase deficiency Tags mtDNA
Green List (high evidence)	MT-CO3 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes Leigh syndrome Leigh-like syndrome Myopathy Encephalopathy and myopathy Tags
Green List (high evidence)	MT-CYB Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Leber's optic atrophy Encephalomyopathy Cardiomyopathy Tags mtDNA
Green List (high evidence)	MT-ND1 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy Deafness Dystonia Tags mtDNA
Green List (high evidence)	MT-ND2 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy Tags mtDNA
Green List (high evidence)	MT-ND3 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Complex I deficiency Tags mtDNA
Green List (high evidence)	MT-ND4 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy Dystonia Tags mtDNA
Green List (high evidence)	MT-ND4L Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Leber's optic atrophy Tags mtDNA
Green List (high evidence)	MT-ND5 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy MERFF Tags mtDNA
Green List (high evidence)	MT-ND6 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial cardiomyopathy complex I deficiency Leber's optic neuropathy MELAS Dystonia Striatal necrosis, bilateral Tags mtDNA
Green List (high evidence)	MT-RNR1 Mitochondrial disease v0.969	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Deafness Cardiomyopathy Tags mtDNA
Green List (high evidence)	MT-TA Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial myopathy Tags mtDNA
Green List (high evidence)	MT-TC Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MELAS Dystonia Tags mtDNA
Green List (high evidence)	MT-TD Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial myopathy Tags mtDNA
Green List (high evidence)	MT-TE Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial myopathy Deafness Diabetes Tags mtDNA
Green List (high evidence)	MT-TF Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MELAS MERFF Encephalopathy Myopathy Tags mtDNA
Green List (high evidence)	MT-TG Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy Tags mtDNA
Green List (high evidence)	MT-TH Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Dilated cardiomyopathy Retinopathy Deafness MELAS MERFF Tags mtDNA
Green List (high evidence)	MT-TI Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial myopathy Encephalopathy Tags mtDNA
Green List (high evidence)	MT-TK Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MERRF Encephalopathy Deafness Cardiomyopathy Tags mtDNA
Green List (high evidence)	MT-TL1 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MELAS Tags mtDNA
Green List (high evidence)	MT-TL2 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Myopathy Cardiomyopathy Encephalomyopathy Tags mtDNA
Green List (high evidence)	MT-TM Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial myopathy Tags mtDNA
Green List (high evidence)	MT-TN Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial myopathy Tags
Green List (high evidence)	MT-TP Mitochondrial disease v0.969	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Red Expert Review Green Expert list Phenotypes MERRF myopathy Tags mtDNA
Green List (high evidence)	MT-TQ Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MELAS deafness mitochondrial myopathy Tags mtDNA
Green List (high evidence)	MT-TR Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Encephalomyopathy Tags mtDNA
Green List (high evidence)	MT-TS1 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MERRF MELAS Deafness Tags mtDNA
Green List (high evidence)	MT-TS2 Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MERRF MELAS Cerebellar ataxia Tags mtDNA
Green List (high evidence)	MT-TV Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Ataxia Seizures Deafness Tags mtDNA
Green List (high evidence)	MT-TW Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Encephalomyopathy Tags mtDNA
Green List (high evidence)	MT-TY Mitochondrial disease v0.969	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Progressive external ophthalmoplegia Cardiomyopathy Myopathy Tags mtDNA somatic
Green List (high evidence)	MTCL1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs Tags
Green List (high evidence)	MTFMT Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 15 22499348 23499752 614947 Tags
Green List (high evidence)	MTFMT Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Tags
Green List (high evidence)	MTFMT Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list 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)	MTHFR Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Tags
Green List (high evidence)	MTHFR Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Homocystinuria due to MTHFR deficiency, 236250 Tags
Green List (high evidence)	MTHFR Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport Tags
Green List (high evidence)	MTHFS Genetic Epilepsy v1.108	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Green List (high evidence)	MTMR2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 HMSN MONDO:0011066 Tags
Green List (high evidence)	MTO1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 10, OMIM #614702 Tags
Green List (high evidence)	MTOR Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Spastic ataxia 4, autosomal recessive 613672 Lethal encephalopathy Tags founder
Green List (high evidence)	MTR Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 Tags
Green List (high evidence)	MTRR Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cbl E type MIM#236270 Disorders of the metabolism of sulphur amino acids Tags
Green List (high evidence)	MTTP Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Abetalipoproteinemia (MIM#200100) Young onset Abetalipoproteinaemia hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy Tags treatable
Green List (high evidence)	MTTP Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags treatable
Green List (high evidence)	MVK Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria 610377 Tags
Green List (high evidence)	MVK Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mevalonic aciduria MIM#610377 Disorders of sterol biosynthesis Tags
Green List (high evidence)	MYCBP2 Genetic Epilepsy v1.108	2 reviews 2 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)	MYH14 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369 Tags
Green List (high evidence)	MYH7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Expert Review Green Expert list Phenotypes Laing distal myopathy (MIM#160500) Scapuloperoneal syndrome, myopathic type (MIM#181430) Tags
Green List (high evidence)	MYL2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Tags
Green List (high evidence)	MYOT Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, myofibrillar, 3 (MIM#609200) Tags
Green List (high evidence)	MYT1L Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 39, MIM# 616521 Tags
Green List (high evidence)	NAA10 Genetic Epilepsy v1.108	5 reviews 3 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes NAA10-related syndrome MONDO:0100124 Tags
Green List (high evidence)	NAA60 Brain Calcification v1.99	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 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Tags
Green List (high evidence)	NADK2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green List (high evidence)	NADK2 Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green List (high evidence)	NAGA Lysosomal Storage Disorder v1.13	1 review 1 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)	NAGA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Kanzaki disease, MIM#609242 Tags
Green List (high evidence)	NAGLU Genetic Epilepsy v1.108	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Amber Royal Melbourne Hospital Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920 Seizures Tags
Green List (high evidence)	NAGLU Lysosomal Storage Disorder v1.13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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)	NALCN Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) Tags
Green List (high evidence)	NAPB Genetic Epilepsy v1.108	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 Hereditary Neuropathy - complex v1.19	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)	NARS Genetic Epilepsy v1.108	2 reviews 2 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 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239 Tags
Green List (high evidence)	NARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239 Deafness, autosomal recessive 94 - MIM#618434 Tags
Green List (high evidence)	NAXD Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 Tags
Green List (high evidence)	NAXD Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Tags
Green List (high evidence)	NAXE Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Tags
Green List (high evidence)	NAXE Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 Tags
Green List (high evidence)	NBEA Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures Tags
Green List (high evidence)	NCDN Genetic Epilepsy v1.108	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)	NDC1 Hereditary Neuropathy - complex v1.19	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 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Microhydranencephaly 605013 Lissencephaly 4 (with microcephaly) 614019 Tags
Green List (high evidence)	NDRG1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot Marie Tooth disease, type 4D, 601455 MONDO:0011085 Tags founder
Green List (high evidence)	NDST1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal recessive 46 - MIM#616116 Tags
Green List (high evidence)	NDUFA1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	NDUFA1 Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green List (high evidence)	NDUFA10 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Green List (high evidence)	NDUFA12 Mitochondrial disease v0.969	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 23 618244 Tags
Green List (high evidence)	NDUFA13 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249 Tags
Green List (high evidence)	NDUFA2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Tags
Green List (high evidence)	NDUFA4 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Leigh syndrome Complex IV deficiency Tags
Green List (high evidence)	NDUFA6 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253 Tags
Green List (high evidence)	NDUFA9 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 26 Tags
Green List (high evidence)	NDUFAF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFAF1 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Tags
Green List (high evidence)	NDUFAF2 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green List (high evidence)	NDUFAF2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green List (high evidence)	NDUFAF3 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency 252010 Tags
Green List (high evidence)	NDUFAF3 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Tags
Green List (high evidence)	NDUFAF4 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Tags
Green List (high evidence)	NDUFAF5 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green List (high evidence)	NDUFAF5 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	NDUFAF6 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239) Tags
Green List (high evidence)	NDUFAF8 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome Tags
Green List (high evidence)	NDUFB10 Mitochondrial disease v0.969	2 reviews 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 Mitochondrial disease v0.969	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 Australian Genomics Health Alliance Mitochondrial Flagship 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 Tags
Green List (high evidence)	NDUFB3 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246 MONDO:0032629 Tags
Green List (high evidence)	NDUFB8 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252 Tags
Green List (high evidence)	NDUFS1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFS1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Tags
Green List (high evidence)	NDUFS2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I disorders Leigh syndrome Mitochondrial Leukoencephalopathy Leigh syndrome associated with mitochondrial complex I deficiency Tags
Green List (high evidence)	NDUFS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Tags
Green List (high evidence)	NDUFS3 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Tags
Green List (high evidence)	NDUFS4 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010 Tags
Green List (high evidence)	NDUFS4 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFS4 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Leigh syndrome, MIM#252010 Tags
Green List (high evidence)	NDUFS6 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Tags
Green List (high evidence)	NDUFS7 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	NDUFS7 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial respiratory chain complex I deficiency Leigh syndrome Genetic leukoencephalopathies: mitochondrial disorders Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFS8 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	NDUFS8 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I disorders Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFS8 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Green List (high evidence)	NDUFV1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFV1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green List (high evidence)	NDUFV1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	NDUFV2 Mitochondrial disease v0.969	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Tags deep intronic founder
Green List (high evidence)	NDUFV2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Tags
Green List (high evidence)	NEB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949 Tags
Green List (high evidence)	NEDD4L Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Periventricular nodular heterotopia 7, MIM#617201 Tags
Green List (high evidence)	NEFH Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 HMSN Tags
Green List (high evidence)	NEFL Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot-Marie-Tooth disease, dominant intermediate G, 617882 HMSN Charcot Marie Tooth disease, type 1F, 607734 Tags
Green List (high evidence)	NEK1 Motor Neurone Disease v1.27	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892 Tags
Green List (high evidence)	NEMF Hereditary Neuropathy - complex v1.19	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)	NEU1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Sialidosis, type I/II MIM#256550 Tags
Green List (high evidence)	NEU1 Lysosomal Storage Disorder v1.13	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)	NEUROD2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 72, MIM# 618374 Tags
Green List (high evidence)	NEXMIF Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, X-linked 98, MIM# 300912 Tags
Green List (high evidence)	NF1 Cerebral vascular malformations v1.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Moyamoya disease Neurofibromatosis, type 1 162200 Tags
Green List (high evidence)	NFE2L2 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591 Disorders of glutathione metabolism Tags
Green List (high evidence)	NFS1 Mitochondrial disease v0.969	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 52, MIM#619386 Complex II/III deficiency multisystem organ failure Tags
Green List (high evidence)	NFU1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Tags
Green List (high evidence)	NFU1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM#605711 Tags
Green List (high evidence)	NFU1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711) Spastic paraplegia 93, autosomal recessive, MIM# 620938 Tags
Green List (high evidence)	NGF Pain syndromes v0.34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuropathy, hereditary sensory and autonomic, type V, 608654 HSAN 5 Congenital sensory neuropathy with selective loss of small myelinated fibers Hereditary sensory neuropathy type V Tags
Green List (high evidence)	NGF Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 MONDO:0012092 Tags
Green List (high evidence)	NGLY1 Congenital Disorders of Glycosylation v1.58	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation, MIM# 615273 alacrima, movement disorder, microcephaly, abnormal LFTs Tags
Green List (high evidence)	NGLY1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273) Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy Tags
Green List (high evidence)	NGLY1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation, MIM# 615273 Tags
Green List (high evidence)	NHLRC1 Glycogen Storage Diseases v1.2	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)	NHLRC1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780 Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green List (high evidence)	NHLRC1 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780 Tags
Green List (high evidence)	NHLRC1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green List (high evidence)	NIID STR Leukodystrophy - adult onset v0.143	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)	NIID STR Early-onset Parkinson disease v2.10	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)	NIID STR Hereditary Neuropathy - complex v1.19	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)	NIID STR Early-onset Dementia v1.29	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)	NIID STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green List (high evidence)	NIPA1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 6, autosomal dominant, MIM# 600363 Tags
Green List (high evidence)	NIPA1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 6, autosomal dominant, MIM# 600363 MONDO:0010878 Tags
Green List (high evidence)	NIPA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 6 Tags
Green List (high evidence)	NIT1 Dystonia - isolated/combined v1.37	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)	NKX2-1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Chorea, hereditary benign MIM#118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags
Green List (high evidence)	NKX2-1 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700 Tags
Green List (high evidence)	NKX6-2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560 Tags
Green List (high evidence)	NKX6-2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green List (high evidence)	NKX6-2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green List (high evidence)	NKX6-2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 MONDO:0033043 Tags
Green List (high evidence)	NOTCH1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH3 Early-onset Dementia v1.29	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 Tags
Green List (high evidence)	NOTCH3 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 Tags
Green List (high evidence)	NOTCH3 Leukodystrophy - adult onset v0.143	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Tags
Green List (high evidence)	NOVA2 Genetic Epilepsy v1.108	3 reviews 2 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)	NOVA2 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 Tags
Green List (high evidence)	NPC1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Niemann-Pick disease, type C1/D, MIM# 257220 Tags
Green List (high evidence)	NPC1 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type C1 and type D, MIM# 257220 MONDO:0009757 Tags
Green List (high evidence)	NPC1 Early-onset Dementia v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type C1 (MIM#257220 MONDO:0009757) Tags
Green List (high evidence)	NPC1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Niemann-Pick disease, type C1/D 257220 Tags
Green List (high evidence)	NPC1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease, type C1 MONDO:0009757 Tags
Green List (high evidence)	NPC1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C1, 257220 Niemann-Pick disease types C1 and D (#257220) Tags
Green List (high evidence)	NPC1 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann-Pick disease, type C1 MONDO:0009757 ataxia Tags
Green List (high evidence)	NPC1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann-Pick disease, MIM# 257220 Parkinsonism Tags
Green List (high evidence)	NPC2 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann Pick C2, OMIM 607625 Parkinsonism Tags
Green List (high evidence)	NPC2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2 MIM#607625 Tags
Green List (high evidence)	NPC2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C2, 607625 Niemann-Pick disease type C2 (#607625) Tags
Green List (high evidence)	NPC2 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2, MIM# 607625 MONDO:0011873 Tags
Green List (high evidence)	NPC2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease, type C2 MONDO:0011873 Dystonia Tags
Green List (high evidence)	NPHP1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4 Tags
Green List (high evidence)	NPRL2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, familial focal, with variable foci 2 617116 focal seizures frontal lobe epilepsy nocturnal frontal lobe epilepsy temporal lobe epilepsy focal cortical dysplasia Tags
Green List (high evidence)	NPRL3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, familial focal, with variable foci 3- MIM#617118 Tags
Green List (high evidence)	NPTX1 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes cerebellar ataxia MONDO#0000437, NPTX1-related Tags
Green List (high evidence)	NR2F1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green List (high evidence)	NR4A2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)	NR4A2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)	NR4A2 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)	NRROS Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodegeneration intracranial calcification epilepsy Tags
Green List (high evidence)	NRROS Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes neurodegeneration intracranial calcification epilepsy Tags
Green List (high evidence)	NRXN1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Pitt-Hopkins-like syndrome 2 - MIM#614325 Tags
Green List (high evidence)	NSD1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Sotos syndrome 1 (MIM#117550), AD Tags
Green List (high evidence)	NSDHL Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes CK syndrome (MIM#300831) Tags
Green List (high evidence)	NSDHL Miscellaneous Metabolic Disorders v1.48	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 NHS GMS Phenotypes CHILD syndrome MIM#308050 Disorders of sterol biosynthesis Tags
Green List (high evidence)	NSRP1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green List (high evidence)	NT5C2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 45, autosomal recessive, MIM# 613162 MONDO:0013165 Tags
Green List (high evidence)	NT5C3A Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 disorder of pyrimidine metabolism Tags
Green List (high evidence)	NTRK1 Pain syndromes v0.34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes HSAN 4 Insensitivity to pain, congenital, with anhidrosis, 256800 Hereditary sensory neuropathy type IV Tags
Green List (high evidence)	NTRK1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes hereditary sensory and autonomic neuropathy type 4 MONDO:0009746 Tags
Green List (high evidence)	NTRK2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 58, MIM# 617830 Tags
Green List (high evidence)	NUBPL Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NUBPL Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Tags
Green List (high evidence)	NUBPL Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242 Tags
Green List (high evidence)	NUDT2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy Tags
Green List (high evidence)	NUP214 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426 epileptic encephalopathy developmental regression microcephaly Tags
Green List (high evidence)	NUS1 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epilepsy, myoclonus, ataxia and scoliosis Mental retardation, autosomal dominant 55, with seizures, 617831 Tags
Green List (high evidence)	NUS1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 55, with seizures, MIM# 617831 Tags
Green List (high evidence)	NUS1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM# 617831 Parkinsonism Developmental delay Intellectual disability Ataxia Myoclonus Tags
Green List (high evidence)	OAT Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 Tags
Green List (high evidence)	OBSCN Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Rhabdomyolysis, MONDO:0005290, OBSCN-related Tags
Green List (high evidence)	OCLN Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 1, MIM#251290 Tags
Green List (high evidence)	OCLN Brain Calcification v1.99	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)	OFD1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10 Tags
Green List (high evidence)	OGDH Mitochondrial disease v0.969	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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia Tags
Green List (high evidence)	OGT Congenital Disorders of Glycosylation v1.58	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Mental retardation, X-linked 106, MIM# 300997 Tags
Green List (high evidence)	OPA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Optic atrophy plus syndrome (MIM#125250) Tags
Green List (high evidence)	OPA1 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Behr syndrome, 210000 Optic atrophy plus syndrome, 125250 Optic atrophy 1, 165500 Tags
Green List (high evidence)	OPA1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	OPA1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 Tags
Green List (high evidence)	OPA3 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Optic atrophy 3 MONDO:0008133 Tags
Green List (high evidence)	OPA3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type III, MIM# 258501 Tags
Green List (high evidence)	OPA3 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria, type III, MIM# 258501 Tags
Green List (high evidence)	OPA3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria type III, 258501 Costeff syndrome Tags
Green List (high evidence)	OPA3 Dystonia - complex v0.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type III, MIM# 258501 developmental delay, hypotonia dystonia and chorea ataxia, optic atrophy spastic paraplegia Tags
Green List (high evidence)	OPA3 Mitochondrial disease v0.969	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 Australian Genomics Health Alliance Mitochondrial Flagship 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)	OPDM1 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Oculopharyngodistal myopathy 1 MIM#164310 Tags
Green List (high evidence)	OPDM2 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Oculopharyngodistal myopathy 2 MIM#618940 Tags
Green List (high evidence)	OPDM4_RILPL1_CGG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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 Ataxia - paediatric v1.30	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 Expert list Royal Melbourne Hospital Phenotypes X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green List (high evidence)	OPHN1 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Tags
Green List (high evidence)	OPTN Early-onset Dementia v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435) Tags
Green List (high evidence)	OPTN Motor Neurone Disease v1.27	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435) Tags
Green List (high evidence)	ORAI1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, tubular aggregate, 2 (MIM#615883) Tags
Green List (high evidence)	OSGEP Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM#617729 Tags
Green List (high evidence)	OTUD6B Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green List (high evidence)	OXCT1 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green List (high evidence)	OXCT1 Fatty Acid Oxidation Defects v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green List (high evidence)	OXR1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000 Tags
Green List (high evidence)	P4HTM Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Tags
Green List (high evidence)	PABPN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes oculopharyngeal muscular dystrophy MONDO:0008116 Tags
Green List (high evidence)	PACS1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Schuurs-Hoeijmakers syndrome (MIM# 615009) Tags
Green List (high evidence)	PACS2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 66 - MIM#618067 Tags
Green List (high evidence)	PAFAH1B1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags SV/CNV
Green List (high evidence)	PAFAH1B1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags
Green List (high evidence)	PAH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phenylketonuria MIM#261600 Disorders of phenylalanine or tyrosine metabolism Tags treatable
Green List (high evidence)	PAH Genetic Epilepsy v1.108	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Phenylketonuria, MIM#261600 Tags treatable
Green List (high evidence)	PAH Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 Tags treatable
Green List (high evidence)	PAK1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Tags
Green List (high evidence)	PAM16 Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223 Disorders of mitochondrial protein import Tags
Green List (high evidence)	PANK2 Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Tags
Green List (high evidence)	PANK2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 1 (MIM#234200) Tags
Green List (high evidence)	PANK2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes HARP syndrome MIM#607236 Neurodegeneration with brain iron accumulation 1 MIM#234200 Tags
Green List (high evidence)	PANK2 Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Pantothenate kinase-associated neurodegeneration (PKAN) Tags
Green List (high evidence)	PANK2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Dystonia Tags
Green List (high evidence)	PARK7 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Parkinson disease 7, autosomal recessive early-onset MIM#606324 Tags
Green List (high evidence)	PARK7 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive early-onset Parkinson disease 7 MONDO:0011658 Tags
Green List (high evidence)	PARK7 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PARP6 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green List (high evidence)	PARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green List (high evidence)	PC Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pyruvate carboxylase deficiency, MIM# 266150 Tags
Green List (high evidence)	PC Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pyruvate carboxylase deficiency, MIM#266150 Tags
Green List (high evidence)	PCCA Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Propionicacidemia - MIM#606054 Tags treatable
Green List (high evidence)	PCCA Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Propionicacidemia, MIM# 606054 Tags treatable
Green List (high evidence)	PCCB Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Propionicacidemia - MIM#606054 Tags review
Green List (high evidence)	PCCB Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Propionicacidemia, MIM# 606054 Tags treatable
Green List (high evidence)	PCDH12 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green List (high evidence)	PCDH12 Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green List (high evidence)	PCDH19 Genetic Epilepsy v1.108	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Genetic Epilepsy v1.108	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)	PCK1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680 Disorders of gluconeogenesis Tags
Green List (high evidence)	PCNT Cerebral vascular malformations v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II 210720 Moyamoya disease Tags
Green List (high evidence)	PCYT2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green List (high evidence)	PCYT2 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes intellectual disability regression spastic para-/tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green List (high evidence)	PCYT2 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Spastic paraplegia 82, autosomal recessive, MIM# 618770 global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green List (high evidence)	PDCD10 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Cerebral Cavernous Malformations Cerebral cavernous malformations 3 Cerebral cavernous malformations 3, 603285 Cerebral Cavernous Malformation Familial Cerebral Cavernous Malformation Tags
Green List (high evidence)	PDCD10 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cerebral cavernous malformations-3 MIM#603285 Tags
Green List (high evidence)	PDE10A Dystonia - isolated/combined v1.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Early onset chorea without epilepsy infantile onset limb and orofacial dyskinesia (OMIM 616921) Tags
Green List (high evidence)	PDE12 Mitochondrial disease v0.969	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 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150 Tags
Green List (high evidence)	PDE8B Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Striatal degeneration, autosomal dominant, MIM#609161 Tags
Green List (high evidence)	PDGFB Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Basal ganglia calcification, idiopathic, 5 615483 Tags
Green List (high evidence)	PDGFB Brain Calcification v1.99	2 reviews 2 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)	PDGFB Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 5, MIM# 615483 Tags
Green List (high evidence)	PDGFRB Brain Calcification v1.99	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 MONDO:0014004 Tags
Green List (high evidence)	PDGFRB Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags somatic
Green List (high evidence)	PDGFRB Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 Tags
Green List (high evidence)	PDHA1 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170 Tags
Green List (high evidence)	PDHA1 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170 Tags
Green List (high evidence)	PDHA1 Dystonia - complex v0.272	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 Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Tags
Green List (high evidence)	PDHA1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	PDHB Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	PDHX Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags
Green List (high evidence)	PDHX Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	PDHX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349 Tags
Green List (high evidence)	PDK3 Hereditary Neuropathy_CMT - isolated v1.51	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 Expert list Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905 HMSN Tags
Green List (high evidence)	PDK3 Mitochondrial disease v0.969	3 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 list Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905 Tags
Green List (high evidence)	PDP1 Mitochondrial disease v0.969	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PDSS1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green List (high evidence)	PDSS2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	PDXK Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511 Disorders of pyridoxine metabolism Tags
Green List (high evidence)	PDXK Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Axonal polyneuropathy optic atrophy Tags
Green List (high evidence)	PDYN Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 23 (MIM#610245) Cerebellar ataxia, sensory-motor axonal neuropathy Spinocerebellar ataxia 23 Tags
Green List (high evidence)	PDYN Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 23 Spinocerebellar ataxia 23, 610245 Tags
Green List (high evidence)	PEPD Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Prolidase deficiency MIM#170100 disorders of peptide metabolism Tags
Green List (high evidence)	PET100 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green List (high evidence)	PET100 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green List (high evidence)	PEX1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green List (high evidence)	PEX1 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Green List (high evidence)	PEX10 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 6B, 614871 Tags
Green List (high evidence)	PEX10 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Tags
Green List (high evidence)	PEX10 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX10 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870 Tags
Green List (high evidence)	PEX11B Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes ?Peroxisome biogenesis disorder 14B, 614920 Tags
Green List (high evidence)	PEX11B Peroxisomal Disorders v0.54	1 review 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 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 HMSN Tags
Green List (high evidence)	PEX12 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX12 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 Peroxisome biogenesis disorder 3B - MIM#266510 Tags
Green List (high evidence)	PEX12 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 3A, 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Green List (high evidence)	PEX13 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX13 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 11B, 614885 Peroxisome biogenesis disorder 11A (Zellweger), 614883 Tags
Green List (high evidence)	PEX13 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green List (high evidence)	PEX14 Peroxisomal Disorders v0.54	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 Tags
Green List (high evidence)	PEX14 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green List (high evidence)	PEX16 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green List (high evidence)	PEX16 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX16 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Peroxisome biogenesis disorder 8A, 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green List (high evidence)	PEX19 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX19 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green List (high evidence)	PEX19 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886 Tags
Green List (high evidence)	PEX2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 5B, 614867 Peroxisome biogenesis disorder 5A (Zellweger) 614866 Tags
Green List (high evidence)	PEX2 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX2 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Tags
Green List (high evidence)	PEX26 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872 Tags
Green List (high evidence)	PEX26 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX26 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Tags
Green List (high evidence)	PEX3 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Peroxisome biogenesis disorder 10B , MIM# 617370 Tags
Green List (high evidence)	PEX3 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), 614882 ?Peroxisome biogenesis disorder 10B, 617370 Tags
Green List (high evidence)	PEX5 Peroxisomal Disorders v0.54	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)	PEX5 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 Peroxisome biogenesis disorder 2B, 202370 Tags
Green List (high evidence)	PEX5 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Peroxisome biogenesis disorder 2B, MIM# 202370 Tags
Green List (high evidence)	PEX6 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Tags
Green List (high evidence)	PEX6 Leukodystrophy - paediatric v0.318	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 Peroxisome biogenesis disorder 4B, 614863 Tags
Green List (high evidence)	PEX6 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PEX7 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Tags
Green List (high evidence)	PEX7 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 9B, 614879 Tags
Green List (high evidence)	PEX7 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Tags
Green List (high evidence)	PEX7 Peroxisomal Disorders v0.54	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)	PEX7 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Refsum disease Peroxisome biogenesis disorder 9B, MIM#614879 Tags
Green List (high evidence)	PFKM Glycogen Storage Diseases v1.2	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)	PFKM Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VII, MIM# 232800 Tags
Green List (high evidence)	PFN1 Motor Neurone Disease v1.27	3 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PGAM2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease X, MIM# 261670 Tags
Green List (high evidence)	PGAM2 Glycogen Storage Diseases v1.2	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)	PGAP2 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	1 review 1 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)	PGAP3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green List (high evidence)	PGK1 Glycogen Storage Diseases v1.2	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)	PGK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency 300653 MONDO:0010392 Tags
Green List (high evidence)	PGK1 Early-onset Parkinson disease v2.10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 Haemolytic anaemia Rhabdomyolysis Myopathy Juvenile Parkinsonism OMIM 300653 Tags
Green List (high evidence)	PGM1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 Tags treatable
Green List (high evidence)	PGM1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It 614921 Tags treatable
Green List (high evidence)	PGM1 Glycogen Storage Diseases v1.2	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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder, MONDO:0700092, PGM2L1-related Tags
Green List (high evidence)	PGM3 Congenital Disorders of Glycosylation v1.58	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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 70, MIM# 618298 Tags
Green List (high evidence)	PHF6 Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome MIM#301900 Tags
Green List (high evidence)	PHGDH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neu-Laxova syndrome 1, MIM# 256520 Phosphoglycerate dehydrogenase deficiency, MIM# 601815 Tags
Green List (high evidence)	PHGDH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green List (high evidence)	PHKA1 Glycogen Storage Diseases v1.2	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)	PHKA1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscle glycogenosis, MIM# 300559 Tags
Green List (high evidence)	PHKA2 Glycogen Storage Diseases v1.2	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PHKB Glycogen Storage Diseases v1.2	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 Glycogen Storage Diseases v1.2	1 review 1 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)	PHYH Peroxisomal Disorders v0.54	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)	PHYH Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Refsum disease, MIM# 266500 Tags
Green List (high evidence)	PHYH Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Refsum Disease MIM#266500 Tags
Green List (high evidence)	PI4K2A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Tags
Green List (high evidence)	PI4KA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Tags
Green List (high evidence)	PI4KA Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Spastic paraplegia 84, autosomal recessive, MIM# 619621 Tags
Green List (high evidence)	PIDD1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Tags
Green List (high evidence)	PIGA Metal Metabolism Disorders v0.45	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072 Tags
Green List (high evidence)	PIGA Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	PIGA Congenital Disorders of Glycosylation v1.58	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 Tags
Green List (high evidence)	PIGB Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 80 618580 Tags
Green List (high evidence)	PIGB Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Tags
Green List (high evidence)	PIGG Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green List (high evidence)	PIGH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green List (high evidence)	PIGH Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green List (high evidence)	PIGK Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green List (high evidence)	PIGK Genetic Epilepsy v1.108	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 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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 Tags founder SV/CNV
Green List (high evidence)	PIGN Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags
Green List (high evidence)	PIGO Congenital Disorders of Glycosylation v1.58	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)	PIGO Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green List (high evidence)	PIGP Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green List (high evidence)	PIGP Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green List (high evidence)	PIGQ Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 77, MIM# 618548 Tags
Green List (high evidence)	PIGS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green List (high evidence)	PIGS Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green List (high evidence)	PIGS Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 95, OMIM # 618143 Tags
Green List (high evidence)	PIGT Congenital Disorders of Glycosylation v1.58	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)	PIGT Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green List (high evidence)	PIGU Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590 Tags
Green List (high evidence)	PIGU Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21 OMIM #618590 Tags
Green List (high evidence)	PIGV Congenital Disorders of Glycosylation v1.58	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)	PIGV Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green List (high evidence)	PIGW Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green List (high evidence)	PIGW Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 intractable seizures West syndrome severe developmental delay dysmorphic facial features hyperphosphatasia epilepsy recurrent respiratory infections hypotonia stereotypies Tags
Green List (high evidence)	PIK3CA Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 Tags somatic
Green List (high evidence)	PIK3CA Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cerebral cavernous malformations 4, MIM#619538 Tags somatic
Green List (high evidence)	PIK3R2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Tags
Green List (high evidence)	PINK1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Parkinson disease 6, early onset Dystonia Tags
Green List (high evidence)	PINK1 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PINK1 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 6, early onset MIM#605909 Tags
Green List (high evidence)	PINK1 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Parkinson disease 6, early onset, MIM# 605909 Tags
Green List (high evidence)	PIP5K1C Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Tags
Green List (high evidence)	PITRM1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green List (high evidence)	PITRM1 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green List (high evidence)	PKD1 Cerebral vascular malformations v1.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polycystic kidney disease, adult type I 173900 Tags
Green List (high evidence)	PLA2G16 Hereditary Neuropathy - complex v1.19	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)	PLA2G6 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217 Tags
Green List (high evidence)	PLA2G6 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Parkinson disease 14, autosomal recessive 612953 PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B 610217 Infantile neuroaxonal dystrophy 1 256600 Tags
Green List (high evidence)	PLA2G6 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile neuroaxonal dystrophy 1 MIM#256600 Neurodegeneration with brain iron accumulation 2B MIM#610217 Parkinson disease 14, autosomal recessive MIM#612953 Tags
Green List (high evidence)	PLA2G6 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile neuroaxonal dystrophy 1 (MIM#256600) Neurodegeneration with brain iron accumulation 2B (MIM#610217) Tags
Green List (high evidence)	PLA2G6 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive Parkinson disease 14 MONDO:0013060 Tags
Green List (high evidence)	PLA2G6 Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes PLA2G6-associated neurodegeneration (PLAN) Tags
Green List (high evidence)	PLA2G6 Early-onset Dementia v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 14, autosomal recessive, MIM# 612953 Tags
Green List (high evidence)	PLA2G6 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Autosomal recessive Parkinson disease 14, 612953 Parkinson disease 14 (#612953) Infantile neuroaxonal dystrophy 1 (#256600) Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B (#610217) Neurodegeneration with brain iron accumulation 2B, 610217 Tags
Green List (high evidence)	PLAA Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green List (high evidence)	PLCB1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 12 (MIM#613722) Tags SV/CNV
Green List (high evidence)	PLEC Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Tags
Green List (high evidence)	PLEKHG5 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376 Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Tags
Green List (high evidence)	PLK1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy microcephaly intellectual disability Tags
Green List (high evidence)	PLP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 2, X-linked, MIM# 312920 Tags
Green List (high evidence)	PLP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 2, X-linked recessive, 312920 Tags
Green List (high evidence)	PLP1 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Pelizaeus-Merzbacher disease, MIM# 312080 Tags
Green List (high evidence)	PLP1 Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pelizaeus-Merzbacher disease, 312080 Tags
Green List (high evidence)	PLP1 Genetic Epilepsy v1.108	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 Pelizaeus-Merzbacher Disease, MIM#312080 Tags
Green List (high evidence)	PLPBP Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Tags
Green List (high evidence)	PLXNA1 Genetic Epilepsy v1.108	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)	PMM2 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green List (high evidence)	PMM2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy Tags
Green List (high evidence)	PMM2 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, type 1A, 118220 Roussy Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393 Neuropathy, recurrent, with pressure palsies, 162500 Charcot Marie Tooth disease, type 1E, 118300 Dejerine Sottas disease, 145900 HMSN Tags SV/CNV
Green List (high evidence)	PMPCA Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green List (high evidence)	PMPCA Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PMPCB Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 Tags
Green List (high evidence)	PMPCB Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green List (high evidence)	PMPCB Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PNKD Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 Tags
Green List (high evidence)	PNKD Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 Tags
Green List (high evidence)	PNKD Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 MONDO:0007326 Tags
Green List (high evidence)	PNKP Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Microcephaly, seizures and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Ataxia with oculomotor apraxia 4 (#616267) Tags
Green List (high evidence)	PNKP Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589) Ataxia-oculomotor apraxia 4 (MIM#616267) Tags
Green List (high evidence)	PNKP Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microcephaly, seizures, and developmental delay, MIM# 613402 Tags
Green List (high evidence)	PNKP Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia-oculomotor apraxia 4, MIM# 616267 Tags
Green List (high evidence)	PNP Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Tags
Green List (high evidence)	PNPLA2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags
Green List (high evidence)	PNPLA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neutral lipid storage disease with myopathy 610717 Tags
Green List (high evidence)	PNPLA6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Laurence-Moon Syndrome (LMS) MIM#245800 Spastic Paraplegia Type 39 MIM#612020 Tags
Green List (high evidence)	PNPLA6 Ataxia - adult onset v1.18	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients Boucher-Neuhauser syndrome, 215470 Sapstic paraplegia 39, 612020 Oliver-McFarlane syndrome (#603197) Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Oliver-McFarlane syndrome, 275400 Tags
Green List (high evidence)	PNPLA6 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 39, autosomal recessive, 612020 Tags
Green List (high evidence)	PNPLA6 Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Boucher-Neuhauser syndrome MIM#215470 Laurence-Moon syndrome MIM#245800 Oliver-McFarlane syndrome MIM#275400 Spastic paraplegia 39, autosomal recessive MIM#612020 Tags
Green List (high evidence)	PNPLA8 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Mitochondrial myopathy with lactic acidosis (MIM#251950), AR Tags
Green List (high evidence)	PNPLA8 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green List (high evidence)	PNPLA8 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green List (high evidence)	PNPLA8 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green List (high evidence)	PNPO Neurotransmitter Defects v1.7	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)	PNPO Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Tags
Green List (high evidence)	PNPT1 Genetic Epilepsy v1.108	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 13, MIM# 614932 Tags
Green List (high evidence)	PNPT1 Mitochondrial disease v0.969	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932) Deafness, autosomal recessive 70 (MIM#614934) Tags
Green List (high evidence)	POGLUT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232) Tags
Green List (high evidence)	POGZ Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes White-Sutton syndrome MIM#616364 Tags
Green List (high evidence)	POLG Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green List (high evidence)	POLG Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Tags
Green List (high evidence)	POLG Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Tags
Green List (high evidence)	POLG Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list 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 Tags
Green List (high evidence)	POLG Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal dominant progressive external ophthalmoplegia MONDO:0008003 Tags
Green List (high evidence)	POLG Ataxia - adult onset v1.18	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Mitochondrial recessive ataxia syndrome, 607459 Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 autosomal recessive progressive external opthalmoplegia, 258450 autosomal dominant progressive external ophthalmoplegia, 157640 Tags
Green List (high evidence)	POLG Mitochondrial disease v0.969	2 reviews 2 green	Unknown	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	POLG Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green List (high evidence)	POLG Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Progressive external ophthalmoplegia, autosomal dominant 1 157640 Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Progressive external ophthalmoplegia, autosomal recessive 1 258450 Tags
Green List (high evidence)	POLG2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Tags
Green List (high evidence)	POLG2 Mitochondrial disease v0.969	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	POLR1C Leukodystrophy - adult onset v0.143	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green List (high evidence)	POLR1C Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green List (high evidence)	POLR3A Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Autosomal Recessive Ataxia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 Tags
Green List (high evidence)	POLR3A Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Tags
Green List (high evidence)	POLR3A Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Tags
Green List (high evidence)	POLR3A Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Striatal abnormalities Dystonia Tags
Green List (high evidence)	POLR3A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia Tags deep intronic
Green List (high evidence)	POLR3A Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 POLR3A Leukoencephalopathy Parkinsonism Ocular and dental abnormality Hypogonadism Tags
Green List (high evidence)	POLR3B Genetic Epilepsy v1.108	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes ataxia, spasticity, and demyelinating neuropathy Tags
Green List (high evidence)	POLR3B Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 Tags
Green List (high evidence)	POLR3B Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381 Tags
Green List (high evidence)	POLR3B Hereditary Neuropathy - complex v1.19	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742 Tags
Green List (high evidence)	POLR3B Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Tags
Green List (high evidence)	POLR3K Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes POLR3-related leukodystrophy MONDO:0700282 Tags founder
Green List (high evidence)	POLRMT Mitochondrial disease v0.969	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)	POMGNT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830 Tags
Green List (high evidence)	POMGNT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Tags
Green List (high evidence)	POMGNT1 Congenital Disorders of Glycosylation v1.58	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 A3, 253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 Tags
Green List (high evidence)	POMGNT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Tags
Green List (high evidence)	POMGNT2 Congenital Disorders of Glycosylation v1.58	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 614830 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135 Tags
Green List (high evidence)	POMK Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	POMT1 Congenital Disorders of Glycosylation v1.58	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 (limb-girdle), type C, 1 609308 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155 Tags
Green List (high evidence)	POMT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	POMT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 Tags
Green List (high evidence)	POMT2 Congenital Disorders of Glycosylation v1.58	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)	POMT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	POPDC3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green List (high evidence)	POU4F1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ataxia intention tremor hypotonia Tags
Green List (high evidence)	PPA2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PPCS Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 2C, MIM# 618189 Tags
Green List (high evidence)	PPFIA3 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Tags
Green List (high evidence)	PPIL1 Genetic Epilepsy v1.108	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)	PPOX Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Porphyria variegata, MIM# 176200 Variegate porphyria, childhood-onset, MIM# 620483 Tags
Green List (high evidence)	PPOX Mitochondrial disease v0.969	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes Porphyria variegata MIM#176200 Tags
Green List (high evidence)	PPP1R21 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383 Hypotonia intellectual disability white matter abnormalities Tags
Green List (high evidence)	PPP1R3F Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354 Tags
Green List (high evidence)	PPP2R1A Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature 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)	PPP2R5D Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Early onset Parkinsonism Houge-Janssens syndrome 1, MIM#616355 Tags
Green List (high evidence)	PPP2R5D Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Houge-Janssens syndrome 1 MIM#616355 Tags
Green List (high evidence)	PPP3CA Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 91, MIM#617711 Tags
Green List (high evidence)	PPT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744 Tags
Green List (high evidence)	PPT1 Lysosomal Storage Disorder v1.13	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)	PRDM12 Pain syndromes v0.34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes insensitivity to pain Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488 MONDO:0014662 Tags
Green List (high evidence)	PRDM12 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488 MONDO:0014662 HSAN/SFN Tags
Green List (high evidence)	PRDX3 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia (early onset, mild to moderate, progressive) Tags
Green List (high evidence)	PRDX3 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia (early onset, mild to moderate, progressive) Tags
Green List (high evidence)	PRDX3 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia (early onset, mild to moderate, progressive) Tags
Green List (high evidence)	PREPL Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Disorders of amino acid transport Tags SV/CNV
Green List (high evidence)	PRKAG2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolff-Parkinson-White syndrome 194200 Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Tags
Green List (high evidence)	PRKAG2 Glycogen Storage Diseases v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease of heart, lethal congenital, MIM# 261740 Tags
Green List (high evidence)	PRKCG Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 14 MIM#605361 Tags
Green List (high evidence)	PRKCG Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Myoclonus Parkinsonism Tags
Green List (high evidence)	PRKN Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial protein quality control Parkinson disease MONDO:0005180 Tags
Green List (high evidence)	PRKN Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes juvenile parkinsonism/dystonia Parkinson disease, juvenile, type 2 Dystonia Tags
Green List (high evidence)	PRKN Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease, juvenile, type 2 MIM#600116 Tags
Green List (high evidence)	PRKN Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive juvenile Parkinson disease 2 MONDO:0010820 Tags
Green List (high evidence)	PRKRA Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes dystonia 16 MONDO:0012789 Tags
Green List (high evidence)	PRKRA Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 16, MIM# 612067 MONDO:0012789 Tags founder
Green List (high evidence)	PRMT7 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Tags
Green List (high evidence)	PRNP Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple allelic disorders reported Huntington disease-like 1 Autosomal Dominant Ataxia Gerstmann-Straussler disease Insomnia, fatal familial Creutzfeldt-Jakob disease Tags
Green List (high evidence)	PRNP Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Prion Disease (MIM#176640) Creutzfeldt-Jakob disease (MIM#123400) Tags
Green List (high evidence)	PRNP Hereditary Neuropathy - complex v1.19	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Prion diseases peripheral neuropathy chronic diarrhea dementia Tags
Green List (high evidence)	PRNP Pain syndromes v0.34	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440 Tags
Green List (high evidence)	PRNP Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes inherited Creutzfeldt-Jakob disease MONDO:0007403 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 Tags
Green List (high evidence)	PRNP Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes fatal familial insomnia MONDO:0010808 Tags
Green List (high evidence)	PRODH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Hyperprolinemia, type I, MIM# 239500 Proline oxidase deficiency Tags
Green List (high evidence)	PRODH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperprolinemia, type I 239500 Proline oxidase deficiency Tags
Green List (high evidence)	PRPF8 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Phenotypes Neurodevelopmental disorder MONDO:0700092, PRPF8-related Retinitis pigmentosa 13 - MIM#600059 Tags
Green List (high evidence)	PRPS1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Arts syndrome 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 Deafness, X-linked 1 304500 Gout, PRPS-related 300661 Phosphoribosylpyrophosphate synthetase superactivity 300661 Tags
Green List (high evidence)	PRPS1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070 HMSN Tags
Green List (high evidence)	PRRT2 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Episodic kinesigenic dyskinesia 1 MIM#128200 Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066 Seizures, benign familial infantile, 2 MIM#605751 Tags
Green List (high evidence)	PRRT2 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Episodic kinesigenic dyskinesia 1, MIM# 128200 MONDO:0007494 Tags
Green List (high evidence)	PRRT2 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	PRRT2 Brain Channelopathies v1.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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)	PRRT2 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS episodic kinesigenic dyskinesia dystonia and occasionally hemiplegic migraine and epilepsy episodic kinesigenic dyskinesia, 128200 EPISODIC KINESIGENIC DYSKINESIA 1 SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Tags
Green List (high evidence)	PRUNE1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Tags
Green List (high evidence)	PRX Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dejerine Sottas disease, autosomal recessive, 145900 Charcot Marie Tooth disease, type 4F, 614895 HMSN Tags
Green List (high evidence)	PSAP Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes 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)	PSAP Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	PSAP Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Krabbe disease, atypical, 611722 Tags
Green List (high evidence)	PSAP Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 Tags
Green List (high evidence)	PSAP Early-onset Parkinson disease v2.10	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491 Tags
Green List (high evidence)	PSAT1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Phosphoserine aminotransferase deficiency MIM#610992 Neu-Laxova syndrome 2 MIM#616038 Tags
Green List (high evidence)	PSEN1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease, type 3 (MIM#607822 MONDO:0011913) Tags
Green List (high evidence)	PSEN1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 3 MONDO:0011913 Tags
Green List (high evidence)	PSEN1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Frontotemporal dementia, MIM# 600274 Dystonia Tags
Green List (high evidence)	PSEN1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822 Tags
Green List (high evidence)	PSEN1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green List (high evidence)	PSEN2 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green List (high evidence)	PSEN2 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease-4 (MIM#606889) Tags
Green List (high evidence)	PSMF1 Early-onset Parkinson disease v2.10	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phosphoserine phosphatase deficiency MIM#614023 Disorders of serine, glycine or glycerate metabolism Tags
Green List (high evidence)	PTCD3 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency-51, MIM#619057 Mental retardation optic atrophy Leigh-like syndrome Tags
Green List (high evidence)	PTEN Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cowden syndrome 1, MIM# 158350 Tags
Green List (high evidence)	PTEN Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cowden syndrome 1, MIM#158350 Tags
Green List (high evidence)	PTEN Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cowden syndrome 1, MIM# 158350 Tags
Green List (high evidence)	PTPMT1 Mitochondrial disease v0.969	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)	PTPN23 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Tags
Green List (high evidence)	PTRH2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 Tags
Green List (high evidence)	PTRH2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263) Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy Tags
Green List (high evidence)	PTRH2 Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Miscellaneous disorders associated with mitochondrial dysfunction neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012 Tags
Green List (high evidence)	PTRHD1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Tags
Green List (high evidence)	PTS Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PTS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green List (high evidence)	PTS Neurotransmitter Defects v1.7	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)	PTS Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 6-Pyruvoyltetrahydropterin Synthase Deficiency Dystonia Tags treatable
Green List (high evidence)	PUM1 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 47, 617931 Tags
Green List (high evidence)	PUM1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Tags
Green List (high evidence)	PURA Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green List (high evidence)	PUS1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green List (high evidence)	PUS1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 Tags
Green List (high evidence)	PUS3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051 Tags
Green List (high evidence)	PYCR1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIB MIM#612940 Cutis laxa, autosomal recessive, type IIIB MIM#614438 Disorders of ornithine or proline metabolism Tags
Green List (high evidence)	PYCR2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Green List (high evidence)	PYGL Glycogen Storage Diseases v1.2	1 review 1 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 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green List (high evidence)	PYGM Glycogen Storage Diseases v1.2	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags
Green List (high evidence)	QARS Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green List (high evidence)	QARS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green List (high evidence)	QDPR Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Tags treatable
Green List (high evidence)	QDPR Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags treatable
Green List (high evidence)	QDPR Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Dihydropteridine reductase deficiency Dystonia Tags treatable
Green List (high evidence)	QDPR Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Dehydropteridin reductase deficiency, Infantile-onset dystonia Parkinsonism Epilepsy Autonomic dysfunction Hyperphenylalaninemia Tags
Green List (high evidence)	QRSL1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 40 Tags
Green List (high evidence)	RAB11B Leukodystrophy - paediatric v0.318	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green List (high evidence)	RAB11B Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green List (high evidence)	RAB18 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 3, MIM# 614222 Tags
Green List (high evidence)	RAB39B Early-onset Parkinson disease v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709 Tags
Green List (high evidence)	RAB39B Genetic Epilepsy v1.108	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 72 MIM#300271 Waisman syndrome MIM#311510 Tags
Green List (high evidence)	RAB3GAP2 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Martsolf syndrome 212720 Tags
Green List (high evidence)	RAB5C Genetic Epilepsy v1.108	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 Lysosomal Storage Disorder v1.13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Disorders of autophagy Charcot-Marie-Tooth disease type 2 MONDO:0018993 Tags
Green List (high evidence)	RAB7A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2B, MIM# 600882 MONDO:0010949 Tags
Green List (high evidence)	RAB7A Pain syndromes v0.34	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Charcot-Marie-Tooth disease, type 2B, MIM# 600882 MONDO:0010949 Tags
Green List (high evidence)	RAC3 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Tags
Green List (high evidence)	RAI1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Smith-Magenis syndrome MIM#182290 Tags
Green List (high evidence)	RALA Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311 Intellectual disability Seizures Tags
Green List (high evidence)	RALGAPA1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability hypotonia infantile spasms. Tags
Green List (high evidence)	RANBP2 Mitochondrial disease v0.969	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green List (high evidence)	RANBP2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green List (high evidence)	RARS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Leukodystrophy, hypomyelinating, 9 (# 616140) Tags new gene name
Green List (high evidence)	RARS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 9 616140 Tags
Green List (high evidence)	RARS2 Genetic Epilepsy v1.108	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 6 MIM#611523 Tags
Green List (high evidence)	RARS2 Mitochondrial disease v0.969	2 reviews 1 green 1 red	Unknown	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RASA1 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Parkes Weber syndrome Capillary malformation-arteriovenous malformation, 608354 Parkes Weber Syndrome Parkes Weber syndrome (PKWS) Parkes Weber syndrome, 608355 Capillary Malformation-Arteriovenous Malformation Syndrome Tags
Green List (high evidence)	RBCK1 Glycogen Storage Diseases v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Tags
Green List (high evidence)	RBCK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green List (high evidence)	RBFOX1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Tags
Green List (high evidence)	RBP4 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microphthalmia, isolated, with coloboma 10, MIM# 616428 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147 Tags
Green List (high evidence)	REEP1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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)	REEP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 MONDO:0012453 Tags
Green List (high evidence)	REEP1 Motor Neurone Disease v1.27	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 31, autosomal dominant MIM#610250 Tags
Green List (high evidence)	REEP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 31, autosomal dominant, MIM# 610250 Tags
Green List (high evidence)	REEP2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 72, dominant and recessive, MIM# 615625 MONDO:0014282 Tags
Green List (high evidence)	RELN Genetic Epilepsy v1.108	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes {Epilepsy, familial temporal lobe, 7}, MIM# 616436 MONDO:0014639 Tags
Green List (high evidence)	RERE Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green List (high evidence)	RETREG1 Pain syndromes v0.34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142 Tags
Green List (high evidence)	RETREG1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 HSAN/SFN Tags
Green List (high evidence)	RFC1 Ataxia - adult onset v1.18	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	RFC1 Hereditary Neuropathy - complex v1.19	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Tags STR
Green List (high evidence)	RFT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green List (high evidence)	RFT1 Congenital Disorders of Glycosylation v1.58	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)	RHOBTB2 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Epileptic encephalopathy, early infantile, 64, MIM# 618004 Dystonia, hypertonia, movement disorder truncal hypotonia hemiparesis developmental and epileptic encephalopathy Tags
Green List (high evidence)	RHOBTB2 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 64, MIM#618004 Tags
Green List (high evidence)	RINT1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary spastic paraplegia, MONDO:0019064, RINT1-related Tags
Green List (high evidence)	RMND1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Combined oxidative phosphorylation defect type 11 MONDO:0013969 Tags
Green List (high evidence)	RMND1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green List (high evidence)	RMND1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green List (high evidence)	RMRP Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ribosomal biogenesis cartilage-hair hypoplasia MONDO:0009595 Tags
Green List (high evidence)	RNASEH1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479 Tags
Green List (high evidence)	RNASEH2A Brain Calcification v1.99	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)	RNASEH2A Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Green List (high evidence)	RNASEH2A Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green List (high evidence)	RNASEH2A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Green List (high evidence)	RNASEH2B Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi Goutieres syndrome 2, MIM# 610181 Tags
Green List (high evidence)	RNASEH2B Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 2, 610181 Tags
Green List (high evidence)	RNASEH2B Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green List (high evidence)	RNASEH2B Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green List (high evidence)	RNASEH2B Brain Calcification v1.99	2 reviews 2 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)	RNASEH2B Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 2 MIM#610181 Tags
Green List (high evidence)	RNASEH2C Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Green List (high evidence)	RNASEH2C Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 3 MIM#610329 Tags
Green List (high evidence)	RNASEH2C Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green List (high evidence)	RNASEH2C Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green List (high evidence)	RNASEH2C Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Aicardi-Goutieres syndrome 3 (MIM# 610329) Tags
Green List (high evidence)	RNASET2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green List (high evidence)	RNASET2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leukoencephalopathy, cystic, without megalencephaly MIM#612951 Tags
Green List (high evidence)	RNASET2 Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green List (high evidence)	RNF113A Genetic Epilepsy v1.108	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 Expert Review Phenotypes Trichothiodystrophy 5, nonphotosensitive, MIM#300953 Tags
Green List (high evidence)	RNF13 Genetic Epilepsy v1.108	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)	RNF170 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Tags
Green List (high evidence)	RNF170 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 85, autosomal recessive, MIM# 619686 Tags
Green List (high evidence)	RNF213 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes susceptibility to Moyamoya disease 2, (MIM# 607151) Tags
Green List (high evidence)	RNF213 Mitochondrial disease v0.969	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Moyamoya disease, MONDO:0016820 pediatric arterial ischemic stroke, MONDO:0018585 Tags
Green List (high evidence)	RNF216 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green List (high evidence)	RNF216 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green List (high evidence)	RNF216 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Green List (high evidence)	RNF220 Ataxia - paediatric v1.30	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)	RNF220 Leukodystrophy - paediatric v0.318	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 Genetic Epilepsy v1.108	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)	RNU2-2P Genetic Epilepsy v1.108	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)	RNU4ATAC Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	RNU7-1 Brain Calcification v1.99	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)	RNU7-1 Hereditary Spastic Paraplegia - paediatric v1.86	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)	RNU7-1 Dystonia - complex v0.272	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)	ROGDI Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Kohlschutter-Tonz syndrome, MIM# 226750 Tags
Green List (high evidence)	RORA Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green List (high evidence)	RORA Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 Tags
Green List (high evidence)	RORB Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	RPGRIP1L Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 7, MIM# 611560 Tags
Green List (high evidence)	RPH3A Genetic Epilepsy v1.108	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ribose 5-phosphate isomerase deficiency, MIM# 608611 Leukoencephalopathy Tags
Green List (high evidence)	RPIA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Ribose 5-phosphate isomerase deficiency, MIM#608611 Tags
Green List (high evidence)	RPIA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ribose 5-phosphate isomerase deficiency, MIM# 608611 Tags
Green List (high evidence)	RPS6KA3 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature 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)	RRM2B Mitochondrial disease v0.969	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RRM2B Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Tags
Green List (high evidence)	RRM2B Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green List (high evidence)	RRM2B Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Tags
Green List (high evidence)	RTN2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 MONDO:0011489 Tags
Green List (high evidence)	RTN2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 MONDO:0011489 Tags
Green List (high evidence)	RTN2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 Tags
Green List (high evidence)	RTN4IP1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green List (high evidence)	RTN4IP1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	RTTN Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 Tags
Green List (high evidence)	RUBCN Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Royal Melbourne Hospital Clinical Genetics Department Phenotypes Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Green List (high evidence)	RYR1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 King-Denborough syndrome, 145600 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Tags
Green List (high evidence)	RYR1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes calf predominant distal myopathy distal myopathy MONDO:0018949 Tags
Green List (high evidence)	SACS Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Charlevoix-Saguenay spastic ataxia, 270550 Tags
Green List (high evidence)	SACS Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550 Tags
Green List (high evidence)	SACS Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 MONDO:0010041 Tags SV/CNV
Green List (high evidence)	SACS Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Green List (high evidence)	SACS Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Tags
Green List (high evidence)	SACS Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charlevoix-Saguenay spastic ataxia (MONDO:0010041 MIM#270550) Tags SV/CNV
Green List (high evidence)	SAMD9L Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 49, MIM# 619806 Ataxia-pancytopaenia syndrome, MIM# 159550 Tags
Green List (high evidence)	SAMHD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi Goutieres syndrome 5, MIM# 612952 Tags
Green List (high evidence)	SAMHD1 Brain Calcification v1.99	2 reviews 2 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)	SAMHD1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 5, 612952 Tags
Green List (high evidence)	SAMHD1 Cerebral vascular malformations v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Moyamoya disease Tags
Green List (high evidence)	SAMHD1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green List (high evidence)	SAMHD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green List (high evidence)	SAR1B Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Chylomicron retention disease, MIM# 246700 Tags
Green List (high evidence)	SARS Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Genetic peripheral neuropathy MONDO#0020127, SARS1-related Tags
Green List (high evidence)	SARS2 Mitochondrial disease v0.969	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SART3 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder (MONDO#0700092), SART3-related 46,XY disorder of sex development (MONDO:0020040), SART3-related Tags
Green List (high evidence)	SATB1 Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Phenotypes Kohlschutter-Tonz syndrome-like, MIM# 619229 Neurodevelopmental disorder Intellectual disability Epilepsy Microcephaly Regression Tags
Green List (high evidence)	SATB2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green List (high evidence)	SBF1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green List (high evidence)	SBF1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green List (high evidence)	SBF2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot Marie Tooth disease, type 4B2, MIM#604563 Tags
Green List (high evidence)	SBMA STR Motor Neurone Disease v1.27	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags STR
Green List (high evidence)	SC5D Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Lathosterolosis, MIM# 607330 Tags
Green List (high evidence)	SCA1 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags STR
Green List (high evidence)	SCA10 STR Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags STR
Green List (high evidence)	SCA12 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags
Green List (high evidence)	SCA17 STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags
Green List (high evidence)	SCA17 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags STR
Green List (high evidence)	SCA2 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags STR
Green List (high evidence)	SCA2 STR Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags
Green List (high evidence)	SCA27B STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia type 27B MONDO:0012247 Spinocerebellar ataxia 50 late-onset cerebellar ataxias (LOCAs) Tags
Green List (high evidence)	SCA3 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags STR
Green List (high evidence)	SCA31 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 31 MIM#117210 Tags STR
Green List (high evidence)	SCA36 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 36 MIM#614153 Tags STR
Green List (high evidence)	SCA37 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags STR
Green List (high evidence)	SCA4_ZFHX3_GGC STR Ataxia - adult onset v1.18	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)	SCA4_ZFHX3_GGC STR Hereditary Neuropathy - complex v1.19	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)	SCA6 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags STR
Green List (high evidence)	SCA7 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags STR
Green List (high evidence)	SCA8 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags STR
Green List (high evidence)	SCAF4 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Fliedner-Zweier syndrome, MIM#620511 Tags
Green List (high evidence)	SCAMP5 Genetic Epilepsy v1.108	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)	SCARB2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Tags
Green List (high evidence)	SCARB2 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes action myoclonus-renal failure syndrome MONDO:0009699 Other disorders of complex molecule degradation Tags
Green List (high evidence)	SCN10A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Episodic pain syndrome, familial, 2, 615551 Tags
Green List (high evidence)	SCN10A Pain syndromes v0.34	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Small fibre neuropathy Episodic pain syndrome, familial, 2, MIM# 615551 Tags
Green List (high evidence)	SCN11A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 MONDO:0014244 Tags
Green List (high evidence)	SCN11A Pain syndromes v0.34	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Episodic pain syndrome, familial, 3, MIM# 615552 Tags
Green List (high evidence)	SCN1A Ataxia - paediatric v1.30	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Tags
Green List (high evidence)	SCN1A Genetic Epilepsy v1.108	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2 604403 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Febrile seizures, familial, 3A 604403 Tags
Green List (high evidence)	SCN1A Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dravet syndrome 607208 Epilepsy, generalized, with febrile seizures plus, type 2 604403 Febrile seizures, familial, 3A 604403 Migraine, familial hemiplegic, 3 609634 Tags
Green List (high evidence)	SCN1A Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dravet syndrome, MIM# 607208 Epilepsy, Paekinsonism Tags
Green List (high evidence)	SCN1B Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy (MONDO:0100062) generalized epilepsy with febrile seizures plus (MONDO:0018214) Tags
Green List (high evidence)	SCN2A Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Seizures, benign familial infantile, 3, MIM# 607745 Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Green List (high evidence)	SCN2A Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Early infantile epileptic encephalopathy 11, MIM# 613721 Tags
Green List (high evidence)	SCN3A Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Hypokalemic periodic paralysis, type 2, 613345 Myasthenic syndrome, congenital, 16, 614198 Hyperkalemic periodic paralysis, type 2, 170500 Tags
Green List (high evidence)	SCN8A Genetic Epilepsy v1.108	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 13, MIM# 614558 dominant and recessive Tags
Green List (high evidence)	SCN8A Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoclonus, familial, 2, MIM# 618364 epilepsy paroxysmal kinesigenic dyskinesias Tags
Green List (high evidence)	SCN8A Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy 13, 614558 Cognitive impairment with or without cerebellar ataxia, 614306 Tags
Green List (high evidence)	SCN9A Pain syndromes v0.34	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes HSAN2D, autosomal recessive, AR, 243000 Erythermalgia, primary, AD, 133020 Small fiber neuropathy, AD,133020 Insensitivity to pain, congenital, AR, 243000 Paroxysmal extreme pain disorder, AD, 167400 Tags
Green List (high evidence)	SCN9A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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)	SCO1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex IV deficiency 220110 Tags
Green List (high evidence)	SCO1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Green List (high evidence)	SCO2 Genetic Epilepsy v1.108	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green List (high evidence)	SCO2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850 Tags
Green List (high evidence)	SCO2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 Tags
Green List (high evidence)	SCO2 Mitochondrial disease v0.969	2 reviews 1 green	Unknown	Sources Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	SCO2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 Tags
Green List (high evidence)	SCYL1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 21, 616719 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green List (high evidence)	SCYL1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719) acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744) Spinocerebellar ataxia, autosomal recessive 21 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green List (high evidence)	SDHA Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SDHA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial respiratory chain complex II deficiency, MIM#252011 Tags
Green List (high evidence)	SDHAF1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green List (high evidence)	SDHAF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex II deficiency 252011 Tags
Green List (high evidence)	SDHB Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Succinate dehydrogenase-deficient leukoencephalopathy Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224 Complex II deficiency mitochondrial leucoencephalopathy Tags
Green List (high evidence)	SDHB Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224 Complex II deficiency mitochondrial leucoencephalopathy Tags
Green List (high evidence)	SDHD Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 Tags
Green List (high evidence)	SEC23B Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anemia, congenital, type II 224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green List (high evidence)	SECISBP2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thyroid hormone metabolism, abnormal, 1, MIM# 609698 Tags
Green List (high evidence)	SECISBP2 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes thyroid hormone metabolism, abnormal 1 MONDO:0800046 Other disorders of trace element metabolism Tags
Green List (high evidence)	SEMA6B Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Progressive myoclonic epilepsy Tags
Green List (high evidence)	SEPSECS Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D, MIM# 613811 Tags
Green List (high evidence)	SEPSECS Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pontocerebellar hypoplasia type 2D MONDO:0013438 Other disorders of trace element metabolism Tags
Green List (high evidence)	SEPT9 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyotrophy, hereditary neuralgic, MIM# 162100 HMSN Tags 5'UTR founder new gene name SV/CNV
Green List (high evidence)	SEPT9 Pain syndromes v0.34	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Amyotrophy, hereditary neuralgic, 162100 Hereditary neuralgic amyotrophy Tags
Green List (high evidence)	SERAC1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 Lesions in the basal ganglia Tags
Green List (high evidence)	SERAC1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	SERAC1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green List (high evidence)	SERAC1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MIM#614739 Tags
Green List (high evidence)	SERAC1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Parkinsonism Tags
Green List (high evidence)	SERPINI1 Genetic Epilepsy v1.108	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Tags
Green List (high evidence)	SETBP1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy with myoclonic absences intellectual disability Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Tags
Green List (high evidence)	SETD5 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual disability, autosomal dominant 23 (MIM # 615761) Tags
Green List (high evidence)	SETX Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002 Tags
Green List (high evidence)	SETX Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal recessive spinocerebellar ataxia type 1, 606002 ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia Ataxia-ocular apraxia-2 Tags
Green List (high evidence)	SETX Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Amyotrophic lateral sclerosis 4, juvenile MIM# 602433 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Tags
Green List (high evidence)	SETX Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433) Tags
Green List (high evidence)	SETX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002 Tags
Green List (high evidence)	SFXN4 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	SGCA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, type 2D, 608099 autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Tags
Green List (high evidence)	SGCA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Tags
Green List (high evidence)	SGCB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2E, 604286 Tags
Green List (high evidence)	SGCD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 Tags
Green List (high evidence)	SGCE Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044 Tags
Green List (high evidence)	SGCE Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Expert list Phenotypes Dystonia-11, myoclonic, MIM# 159900 Tags
Green List (high evidence)	SGCG Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2C, 253700 Tags
Green List (high evidence)	SGSH Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 Tags
Green List (high evidence)	SGSH Lysosomal Storage Disorder v1.13	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)	SH3TC2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot Marie Tooth disease, type 4C, 601596 Mononeuropathy of the median nerve, mild, 613353 Tags
Green List (high evidence)	SHANK3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Phelan-McDermid syndrome MIM#606232 Tags
Green List (high evidence)	SHH Genetic Epilepsy v1.108	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypothalamic hamartoma Tags somatic
Green List (high evidence)	SHMT2 Hereditary Spastic Paraplegia - paediatric v1.86	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)	SHMT2 Mitochondrial disease v0.969	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)	SHQ1 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 35, childhood-onset , MIM# 619921 Tags
Green List (high evidence)	SHQ1 Dystonia - complex v0.272	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 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579 Tags
Green List (high evidence)	SI Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Sucrase-isomaltase deficiency, congenital, MIM# 222900 Tags
Green List (high evidence)	SIGMAR1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes ?Distal spinal muscular atrophy, autosomal recessive 2 dHMN/dSMA Distal hereditary motor neuropathy of Jerash type (HMNJ) Tags
Green List (high evidence)	SIGMAR1 Motor Neurone Disease v1.27	3 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SIK1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 30, MIM#616341 developmental and epileptic encephalopathy, MONDO#0100062 Tags
Green List (high evidence)	SIL1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green List (high evidence)	SIL1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green List (high evidence)	SLC10A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Familial hypercholanemia-2, MIM#619256 Tags
Green List (high evidence)	SLC10A7 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Tags
Green List (high evidence)	SLC11A2 Metal Metabolism Disorders v0.45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes AHMIO1 206100 Anemia, hypochromic microcytic, with iron overload 1 AHMIO1 DMT1-related anemia 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 DMT1-related anemia Tags
Green List (high evidence)	SLC12A3 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism Gitelman syndrome MONDO:0009904 Tags
Green List (high evidence)	SLC12A5 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 34, MIM# 616645 {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 Tags
Green List (high evidence)	SLC12A6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Andermann syndrome Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 Tags
Green List (high evidence)	SLC12A6 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068) Tags
Green List (high evidence)	SLC13A3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green List (high evidence)	SLC13A3 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green List (high evidence)	SLC13A3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green List (high evidence)	SLC13A5 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green List (high evidence)	SLC16A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Monocarboxylate transporter 1 deficiency, MIM# 616095 Tags
Green List (high evidence)	SLC16A2 Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green List (high evidence)	SLC16A2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Allan-Herndon-Dudley syndrome, 300523, XL Tags
Green List (high evidence)	SLC16A2 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green List (high evidence)	SLC16A2 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Hypomyelination Tags
Green List (high evidence)	SLC17A5 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Salla disease Sialic acid storage disease, severe infantile type, MIM# 269920 Tags
Green List (high evidence)	SLC17A5 Lysosomal Storage Disorder v1.13	1 review 1 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)	SLC17A5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Salla disease 604369 Sialic acid storage disorder, infantile 269920 Tags
Green List (high evidence)	SLC17A5 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SLC18A2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green List (high evidence)	SLC18A2 Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green List (high evidence)	SLC18A2 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia, infantile, 2 , MIM# 618049 Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism Tags
Green List (high evidence)	SLC19A2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC19A3 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 Dystonia Tags
Green List (high evidence)	SLC19A3 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC19A3 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Childhood onset Dystonia and Parkinsonism Tags
Green List (high evidence)	SLC19A3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483 Tags
Green List (high evidence)	SLC1A2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 41, MIM# 617105 Tags
Green List (high evidence)	SLC1A3 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 Episodic ataxia type 6, 612656 Tags
Green List (high evidence)	SLC1A3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Episodic ataxia, type 6, MIM# 612656 Tags
Green List (high evidence)	SLC1A3 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 MIM#612656 Tags
Green List (high evidence)	SLC1A3 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 MIM#612656 Tags
Green List (high evidence)	SLC1A4 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 MONDO:0014725 Tags founder
Green List (high evidence)	SLC1A4 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 MONDO:0014725 Tags founder
Green List (high evidence)	SLC20A2 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 1, MIM# 213600 Tags
Green List (high evidence)	SLC20A2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Basal ganglia calcification, idiopathic, 1 213600 Dystonia Tags
Green List (high evidence)	SLC20A2 Brain Calcification v1.99	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 1, MIM# 213600 Tags
Green List (high evidence)	SLC22A5 Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine deficiency, systemic primary, MIM# 212140 Tags treatable
Green List (high evidence)	SLC22A5 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Phenotypes Carnitine deficiency, systemic primary 212140 Tags treatable
Green List (high evidence)	SLC22A5 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green List (high evidence)	SLC25A1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Tags
Green List (high evidence)	SLC25A1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	SLC25A12 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypomyelination, global cerebral 612949 Tags
Green List (high evidence)	SLC25A12 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green List (high evidence)	SLC25A12 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green List (high evidence)	SLC25A15 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Tags
Green List (high evidence)	SLC25A19 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC25A19 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 Tags
Green List (high evidence)	SLC25A20 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags treatable
Green List (high evidence)	SLC25A20 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags
Green List (high evidence)	SLC25A20 Fatty Acid Oxidation Defects v1.14	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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 3, MIM# 609304 Tags
Green List (high evidence)	SLC25A24 Mitochondrial disease v0.969	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Fontaine progeroid syndrome MIM#612289 Tags
Green List (high evidence)	SLC25A26 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 28, MIM# 616794 Tags
Green List (high evidence)	SLC25A3 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial phosphate carrier deficiency, MIM# 610773 Tags
Green List (high evidence)	SLC25A32 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Exercise intolerance, riboflavin-responsive, MIM# 616839 Tags
Green List (high evidence)	SLC25A32 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Exercise intolerance, riboflavin-responsive MONDO:0014795 Tags
Green List (high evidence)	SLC25A36 Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green List (high evidence)	SLC25A38 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory Sideroblastic anaemia - increased serum ferritin Tags
Green List (high evidence)	SLC25A4 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Tags
Green List (high evidence)	SLC25A4 Mitochondrial disease v0.969	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	SLC25A4 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SLC25A42 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Tags founder
Green List (high evidence)	SLC25A46 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary motor and sensory neuropathy type VIB, MIM#616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC25A46 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC25A46 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC2A1 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes dystonia 9 GLUT1 deficiency syndrome 2, 612126 GLUT1 DEFICIENCY SYNDROME 1 paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia GLUT1 deficiency syndrome 1, 606777 Dystonia 9, 601042 EPILEPSY, IDIOPATHIC GENERALIZED Tags
Green List (high evidence)	SLC2A1 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 9, MIM# 601042 MONDO:0010983 Tags
Green List (high evidence)	SLC2A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 Developmental delay autosomal dominant, complicated hereditary spastic paraplegia (HSP) paroxysmal choreoathetosis spastic paraplegia seizure Tags
Green List (high evidence)	SLC2A1 Brain Channelopathies v1.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GLUT1-deficiency syndrome, MONDO:0000188 Dystonia 9 601042 GLUT1 deficiency syndrome 1, infantile onset, severe 606777 GLUT1 deficiency syndrome 2, childhood onset 612126 Stomatin-deficient cryohydrocytosis with neurologic defects 608885 Tags
Green List (high evidence)	SLC2A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Disorders of glucose transport Tags
Green List (high evidence)	SLC2A1 Genetic Epilepsy v1.108	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Tags
Green List (high evidence)	SLC2A10 Cerebral vascular malformations v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes 208050 Moyamoya disease Arterial tortuosity syndrome Tags
Green List (high evidence)	SLC2A2 Glycogen Storage Diseases v1.2	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)	SLC30A10 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208 Tags
Green List (high evidence)	SLC30A10 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypermanganesemia with dystonia 1, MIM# 613280 Tags
Green List (high evidence)	SLC30A10 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 Tags
Green List (high evidence)	SLC30A10 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hypermanganesemia syndrome MONDO:0013208 Disorders of magnesium metabolism Tags
Green List (high evidence)	SLC30A2 Metal Metabolism Disorders v0.45	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Zinc deficiency, transient neonatal , MIM#608118 Disorders of zinc metabolism Tags
Green List (high evidence)	SLC30A9 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Birk-Landau-Perez syndrome (MIM#617595) Disorders of zinc metabolism Tags
Green List (high evidence)	SLC30A9 Dystonia - complex v0.272	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 Genetic Epilepsy v1.108	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 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of copper metabolism Huppke-Brendel syndrome MONDO:0013772 Tags
Green List (high evidence)	SLC35A1 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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) Tags
Green List (high evidence)	SLC35A2 Genetic Epilepsy v1.108	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 Australian Genomics Health Alliance Epilepsy Flagship 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
Green List (high evidence)	SLC35A3 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	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 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schneckenbecken dysplasia 269250, MONDO:0010013 O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green List (high evidence)	SLC37A4 Glycogen Storage Diseases v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib (MIM#232220) Glycogen storage disease Ic (MIM#232240) Tags
Green List (high evidence)	SLC37A4 Congenital Disorders of Glycosylation v1.58	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIw, MIM# 619525 Tags
Green List (high evidence)	SLC38A3 Genetic Epilepsy v1.108	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)	SLC39A13 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873 Disorders of zinc metabolism Tags
Green List (high evidence)	SLC39A14 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hypermanganesemia with dystonia 2 MONDO:0014864 Disorders of magnesium metabolism Tags
Green List (high evidence)	SLC39A14 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Green List (high evidence)	SLC39A14 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypermanganesemia with dystonia 2, MIM# 617013 Tags
Green List (high evidence)	SLC39A14 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Hypermanganesemia with dystonia 2 (MIM# 617013) Tags
Green List (high evidence)	SLC39A4 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Acrodermatitis enteropathica MIM#201100 (Disorder of zinc metabolism) Tags
Green List (high evidence)	SLC39A4 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes acrodermatitis enteropathica MONDO:0008713 Disorders of zinc metabolism Tags
Green List (high evidence)	SLC39A8 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SLC39A8-CDG MONDO:0014746 Other disorders of trace element metabolism Tags
Green List (high evidence)	SLC39A8 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags
Green List (high evidence)	SLC39A8 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags
Green List (high evidence)	SLC40A1 Metal Metabolism Disorders v0.45	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 606069 HEMOCHROMATOSIS, TYPE 4 HFE4 606069 Hemochromatosis, type 4 Tags
Green List (high evidence)	SLC44A1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Childhood-onset neurodegeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green List (high evidence)	SLC46A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Green List (high evidence)	SLC46A1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Folate malabsorption, hereditary MIM# 229050 Decreased Ig levels megaloblastic anaemia failure to thrive Immunodeficiency if untreated for prolonged periods results in intellectual disability oral mucositis hypoimmunoglobulinaemia recurrent infections seizures motor impairment leukopaenia thrombocytopaenia Tags
Green List (high evidence)	SLC46A1 Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Green List (high evidence)	SLC52A2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Tags
Green List (high evidence)	SLC52A2 Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green List (high evidence)	SLC52A2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707 Tags
Green List (high evidence)	SLC52A2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867) Tags
Green List (high evidence)	SLC52A2 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 2 MIM#614707 Tags
Green List (high evidence)	SLC52A2 Motor Neurone Disease v1.27	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SLC52A3 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Tags
Green List (high evidence)	SLC52A3 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amytrophic Lateral Sclerosis (ALS) Brown-Vialetto-van Laere syndrome 1 (MIM# 211530) Tags
Green List (high evidence)	SLC52A3 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brown-Vialetto-Van Laere syndrome 1 (MIM#211530) dHMN Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease Tags
Green List (high evidence)	SLC52A3 Fatty Acid Oxidation Defects v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 Tags
Green List (high evidence)	SLC52A3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Tags
Green List (high evidence)	SLC5A1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glucose/galactose malabsorption MIM# 606824 (Disorders of glucose transport) Tags
Green List (high evidence)	SLC5A6 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green List (high evidence)	SLC5A6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903 Tags
Green List (high evidence)	SLC5A6 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green List (high evidence)	SLC5A7 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580 MONDO:0008024 Tags
Green List (high evidence)	SLC6A1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Myoclonic-atonic epilepsy, MIM#616421 Tags
Green List (high evidence)	SLC6A1 Neurotransmitter Defects v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Myoclonic-atonic epilepsy MONDO:0014633 Tags
Green List (high evidence)	SLC6A19 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Hartnup disorder, MIM# 234500 Tags
Green List (high evidence)	SLC6A19 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hartnup disorder, MIM# 234500 Hyperglycinuria, MIM# 138500 Iminoglycinuria, MIM# 242600 Tags
Green List (high evidence)	SLC6A3 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
Green List (high evidence)	SLC6A3 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dopamine transporter deficiency Parkinsonism-dystonia, infantile, 613135 Tags
Green List (high evidence)	SLC6A3 Neurotransmitter Defects v1.7	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 Brain Channelopathies v1.3	1 review 1 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)	SLC6A5 Neurotransmitter Defects v1.7	1 review 1 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 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green List (high evidence)	SLC6A8 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green List (high evidence)	SLC6A9 Neurotransmitter Defects v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Atypical glycine encephalopathy MONDO:0015010 Glycine neurotransmitter disorders Tags
Green List (high evidence)	SLC9A6 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278 Tags
Green List (high evidence)	SLC9A6 Ataxia - paediatric v1.30	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 Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green List (high evidence)	SLITRK2 Genetic Epilepsy v1.108	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)	SMAD4 Cerebral vascular malformations v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 Tags
Green List (high evidence)	SMARCA2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Nicolaides-Baraitser syndrome, MIM# 601358 Tags
Green List (high evidence)	SMARCB1 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 3, MIM# 614608 Epilepsy Tags
Green List (high evidence)	SMARCC2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Coffin-Siris syndrome 8 OMIM #618362 Tags
Green List (high evidence)	SMC1A Genetic Epilepsy v1.108	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Tags
Green List (high evidence)	SMCHD1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Green List (high evidence)	SMN1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy-1, MIM# 253300 Spinal muscular atrophy-2, MIM# 253550 Spinal muscular atrophy-3, MIM# 253400 Spinal muscular atrophy-4, MIM# 271150 Tags SV/CNV
Green List (high evidence)	SMN1 Motor Neurone Disease v1.27	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy-1, MIM# 253300 Tags
Green List (high evidence)	SMPD1 Lysosomal Storage Disorder v1.13	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)	SMPX Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Literature Phenotypes Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Tags
Green List (high evidence)	SMS Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Mental retardation X-linked Snyder-Robinson type, 309583 Tags
Green List (high evidence)	SNAP25 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, SNAP25-related Tags
Green List (high evidence)	SNAP25 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes ?Myasthenic syndrome, congenital, 18, 616330 cerebellar ataxia and seizures Tags
Green List (high evidence)	SNAP29 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528) Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life Tags
Green List (high evidence)	SNAP29 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MIM#609528 Tags
Green List (high evidence)	SNAPC4 Hereditary Spastic Paraplegia - paediatric v1.86	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)	SNCA Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags SV/CNV
Green List (high evidence)	SNCA Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags
Green List (high evidence)	SNF8 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783 Tags
Green List (high evidence)	SNORD118 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, brain calcifications, and cysts MIM#614561 Tags
Green List (high evidence)	SNORD118 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes 614561 Leukoencephalopathy, brain calcifications and cysts, 614561 Tags
Green List (high evidence)	SNORD118 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags
Green List (high evidence)	SNORD118 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags
Green List (high evidence)	SNORD118 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, brain calcifications, and cysts 614561 Tags
Green List (high evidence)	SNUPN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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)	SNX14 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy autosomal recessive spinocerebellar ataxia 20 MONDO:0014601 Tags
Green List (high evidence)	SNX14 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 20, 616354 Autosomal recessive spinocerebellar ataxia (#616354) Tags
Green List (high evidence)	SNX27 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes intellectual disability seizures Tags
Green List (high evidence)	SOD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Tags
Green List (high evidence)	SOD1 Motor Neurone Disease v1.27	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 1 (105400 AD, AR) Spastic tetraplegia and axial hypotonia, progressive (618598 AR) Tags treatable
Green List (high evidence)	SON Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes ZTTK syndrome MIM#617140 Tags
Green List (high evidence)	SORD Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 3 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)	SOX10 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes PCWH Syndrome (MIM#609136 MONDO:0012198) Waardenburg syndrome, type 4C, 613266 Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 HMSN Tags
Green List (high evidence)	SOX10 Leukodystrophy - paediatric v0.318	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SOX6 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tolchin-Le Caignec syndrome, MIM# 618971 Developmental delay ID ASD ADHD Parkinsonism Syringomyelia Tags
Green List (high evidence)	SP9 Genetic Epilepsy v1.108	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)	SPART Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Troyer syndrome, MIM# 275900 SPG20 MONDO:0010156 Tags
Green List (high evidence)	SPART Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Troyer syndrome 275900 Tags
Green List (high evidence)	SPART Motor Neurone Disease v1.27	1 review 1 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SPAST Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Tags
Green List (high evidence)	SPAST Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 4, autosomal dominant, MIM# 182601 Tags
Green List (high evidence)	SPAST Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant Spasticity Hereditary Neuropathies Tags
Green List (high evidence)	SPAST Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant, 182601 Tags
Green List (high evidence)	SPATA5 Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green List (high evidence)	SPATA5 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Tags new gene name
Green List (high evidence)	SPATA5L1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green List (high evidence)	SPATA5L1 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green List (high evidence)	SPG11 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Spastic paraplegia 11, autosomal recessive MIM#604360 Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668 Amyotrophic lateral sclerosis 5, juvenile MIM#602099 Tags
Green List (high evidence)	SPG11 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green List (high evidence)	SPG11 Motor Neurone Disease v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099 Tags
Green List (high evidence)	SPG11 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668 Spastic paraplegia 11, autosomal recessive, MIM#604360 Tags
Green List (high evidence)	SPG11 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green List (high evidence)	SPG11 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green List (high evidence)	SPG11 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green List (high evidence)	SPG11 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Hereditary Neuropathies axonal Charcot-Marie-Tooth disease type 2X MONDO:0014726 Tags
Green List (high evidence)	SPG11 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green List (high evidence)	SPG21 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mast syndrome, 248900 Spastic Paraplegia, autosomal recessive Tags new gene name
Green List (high evidence)	SPG21 Leukodystrophy - adult onset v0.143	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mast syndrome 248900 Tags new gene name
Green List (high evidence)	SPG21 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Mast syndrome, MIM# 248900 Tags new gene name
Green List (high evidence)	SPG7 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Tags
Green List (high evidence)	SPG7 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia Autosomal recessive spastic paraplegia 7, 607259 Tags
Green List (high evidence)	SPG7 Mitochondrial disease v0.969	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Autosomal dominant optic atrophy, MONDO:0020250 Tags
Green List (high evidence)	SPG7 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7, autosomal recessive MIM#607259 Tags
Green List (high evidence)	SPG7 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 7, autosomal recessive, 607259 MONDO:0011803 Tags
Green List (high evidence)	SPG7 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Ataxia Progressive external opthalmoplegia Parkinsonism Tags
Green List (high evidence)	SPR Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Tags
Green List (high evidence)	SPR Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
Green List (high evidence)	SPR Neurotransmitter Defects v1.7	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 612716 Tags
Green List (high evidence)	SPR Dystonia - isolated/combined v1.37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 MONDO:0012994 Tags
Green List (high evidence)	SPR Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Green List (high evidence)	SPR Brain Channelopathies v1.3	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 612716 Tags
Green List (high evidence)	SPTAN1 Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477 Tags
Green List (high evidence)	SPTAN1 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 Tags
Green List (high evidence)	SPTAN1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic Paraplegia MONDO:0019064, SPTAN1-related Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 Tags
Green List (high evidence)	SPTBN1 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Tags
Green List (high evidence)	SPTBN2 Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Spinocerebellar ataxia 5, MIM# 600224 Tags
Green List (high evidence)	SPTBN2 Ataxia - adult onset v1.18	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 5, 600224 Spinocerebellar ataxia, autosomal recessive 14, 615386 Tags
Green List (high evidence)	SPTBN4 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green List (high evidence)	SPTBN4 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green List (high evidence)	SPTLC1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green List (high evidence)	SPTLC1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Juvenile amyotrophic lateral sclerosis-27, MIM#620285 HSAN/SFN Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400 Tags
Green List (high evidence)	SPTLC1 Pain syndromes v0.34	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Hereditary sensory neuropathy type IA HSAN 1 Neuropathy, hereditary sensory and autonomic, type IA, 162400 Tags
Green List (high evidence)	SPTLC1 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes juvenile amyotrophic lateral sclerosis MONDO:0017593 Tags
Green List (high evidence)	SPTLC2 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green List (high evidence)	SPTLC2 Pain syndromes v0.34	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Hereditary sensory and autonomic neuropathy type IC HSAN 1 Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Green List (high evidence)	SPTLC2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 MONDO:0013337 HSAN/SFN Tags
Green List (high evidence)	SQSTM1 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green List (high evidence)	SQSTM1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green List (high evidence)	SRCAP Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595 Floating-Harbor syndrome MIM#136140 Tags
Green List (high evidence)	SRD5A3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Kahrizi syndrome, 612713 Congenital disorder of glycosylation, type Iq, 612379 Congenital disorder of glycosylation type Iq, 612379 Tags
Green List (high evidence)	SRD5A3 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)	SSBP1 Mitochondrial disease v0.969	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 Congenital Disorders of Glycosylation v1.58	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Iy, MIM#300934 Tags
Green List (high evidence)	ST3GAL3 Congenital Disorders of Glycosylation v1.58	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal recessive 12 MIM# 611090 Tags
Green List (high evidence)	ST3GAL5 Congenital Disorders of Glycosylation v1.58	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)	ST3GAL5 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Metal Metabolism Disorders v0.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperferritinemia, MIM# 620729 Tags
Green List (high evidence)	STAG1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 47, MIM# 617635 Tags
Green List (high evidence)	STAMBP Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green List (high evidence)	STAT2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Immunodeficiency 44, MIM# 616636 Tags
Green List (high evidence)	STIM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, tubular aggregate, 1 (MIM#160565) Stormorken syndrome (MIM#185070) Tags
Green List (high evidence)	STN1 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 Tags
Green List (high evidence)	STRADA Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 Tags
Green List (high evidence)	STS Miscellaneous Metabolic Disorders v1.48	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Ichthyosis, X-linked 308100 Sterol metabolism disorder Tags SV/CNV
Green List (high evidence)	STT3A Congenital Disorders of Glycosylation v1.58	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 Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green List (high evidence)	STUB1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green List (high evidence)	STUB1 Early-onset Dementia v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 48 MIM#618093 cognitive impairment Spinocerebellar ataxia, autosomal recessive 16 MIM#615768 Tags
Green List (high evidence)	STUB1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green List (high evidence)	STUB1 Ataxia - adult onset v1.18	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 48, MIM#618093 Tags
Green List (high evidence)	STUB1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar Ataxia 48, OMIM 618093 Parkinsonism Tags
Green List (high evidence)	STX1A Genetic Epilepsy v1.108	2 reviews 2 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 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Green List (high evidence)	STXBP1 Genetic Epilepsy v1.108	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Tags
Green List (high evidence)	STXBP1 Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Juvenile onset Parkinsonism Tags
Green List (high evidence)	SUCLA2 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Dystonia Tags
Green List (high evidence)	SUCLA2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Tags
Green List (high evidence)	SUCLA2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SUCLA2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Green List (high evidence)	SUCLA2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	SUCLG1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes mitochondrial DNA depletion syndrome 9 MONDO:0009504 Tags
Green List (high evidence)	SUFU Ataxia - paediatric v1.30	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes congenital ocular motor apraxia (forme fruste of Joubert syndrome) Tags
Green List (high evidence)	SUMF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Multiple sulfatase deficiency Tags
Green List (high evidence)	SUMF1 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Multiple sulfatase deficiency (MIM#272200) Tags
Green List (high evidence)	SUOX Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Sulfite oxidase deficiency, MIM# 272300 Tags
Green List (high evidence)	SUOX Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sulfite oxidase deficiency, MIM# 272300 Tags
Green List (high evidence)	SUOX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sulfite oxidase deficiency MIM#272300 Tags
Green List (high evidence)	SUOX Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sulfite oxidase deficiency, MIM# 272300 Tags
Green List (high evidence)	SURF1 Mitochondrial disease v0.969	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SURF1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leigh syndrome, due to COX IV deficiency, MIM# 256000 Tags
Green List (high evidence)	SURF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leigh syndrome, due to COX IV deficiency Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green List (high evidence)	SURF1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leigh syndrome, due to COX IV deficiency, 256000 HMSN Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV Tags
Green List (high evidence)	SURF1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Tags
Green List (high evidence)	SVBP Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 Tags founder
Green List (high evidence)	SYN1 Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	SYNE1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green List (high evidence)	SYNE1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743 Tags
Green List (high evidence)	SYNE1 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 8 Cerebellar Ataxia Autosomal recessive spinocerebellar ataxia type 8 Tags
Green List (high evidence)	SYNGAP1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual disability, autosomal dominant 5, MIM # 612621 Tags
Green List (high evidence)	SYNJ1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 53, MIM# 617389 Tags
Green List (high evidence)	SYNJ1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes juvenile Parkinsonism Parkinson disease 20, early-onset Tags
Green List (high evidence)	SYNJ1 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 20, early-onset, MIM# 615530 Tags
Green List (high evidence)	SYT1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Baker-Gordon syndrome MIM#618218 Tags
Green List (high evidence)	SYT2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 7, presynaptic HMSN Tags
Green List (high evidence)	SZT2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 18, OMIM #615476 Tags
Green List (high evidence)	TACO1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052 Tags
Green List (high evidence)	TACO1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TAF8 Genetic Epilepsy v1.108	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Transaldolase deficiency , MIM#606003 Tags
Green List (high evidence)	TAMM41 Mitochondrial disease v0.969	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)	TAMM41 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 Tags
Green List (high evidence)	TANC2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with autistic features and language delay, with or without seizures MIM#618906 Tags
Green List (high evidence)	TANGO2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 Tags
Green List (high evidence)	TANGO2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878 Tags
Green List (high evidence)	TANGO2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Tags
Green List (high evidence)	TARDBP Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD Frontotemporal lobar degeneration, TARDBP-related (MIM#612069 MONDO: 0012790) Tags
Green List (high evidence)	TARDBP Early-onset Dementia v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069) Tags
Green List (high evidence)	TARS2 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 21, MIM# 615918 Tags
Green List (high evidence)	TARS2 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Expert list Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 21 - 615918 Epilepsy Tags
Green List (high evidence)	TAT Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Tyrosinemia, type II, MIM# 276600 Tags treatable
Green List (high evidence)	TAZ Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TAZ Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Barth syndrome MIM#302060 Tags
Green List (high evidence)	TAZ Fatty Acid Oxidation Defects v1.14	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)	TBC1D23 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia type 11, 617695 Tags
Green List (high evidence)	TBC1D24 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes 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)	TBC1D24 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 16, MIM# 615338 Intellectual disability Parkinsonism Seizures Psychosis Tags
Green List (high evidence)	TBC1D2B Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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)	TBCD Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green List (high evidence)	TBCE Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy 617207 Tags
Green List (high evidence)	TBCE Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Tags
Green List (high evidence)	TBCE Brain Calcification v1.99	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Tags
Green List (high evidence)	TBCK Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green List (high evidence)	TBK1 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 4 (MIM#616439 MONDO:0011223) Tags
Green List (high evidence)	TBK1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439 Tags
Green List (high evidence)	TBK1 Lysosomal Storage Disorder v1.13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes frontotemporal dementia with motor neuron disease MONDO:0017161 Disorders of autophagy Tags
Green List (high evidence)	TBL1XR1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Green List (high evidence)	TBX19 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Adrenocorticotropic hormone deficiency - 201400 Tags
Green List (high evidence)	TCAP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2G, 601954 Tags
Green List (high evidence)	TCF4 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins syndrome, MIM# 610954 Tags
Green List (high evidence)	TCP1 Genetic Epilepsy v1.108	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)	TCTN1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 13, MIM# 614173 Tags
Green List (high evidence)	TCTN2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 24, MIM# 616654 Tags
Green List (high evidence)	TCTN3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 18, MIM# 614815 Orofaciodigital syndrome IV, MIM# 258860 Tags
Green List (high evidence)	TDP2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia, autosomal recessive 23 Tags
Green List (high evidence)	TDP2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 23, 616949 Tags
Green List (high evidence)	TECPR2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 49, autosomal recessive HSAN/SFN Tags
Green List (high evidence)	TECPR2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Autonomic-sensory neuropathy Tags
Green List (high evidence)	TECPR2 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia 49 MONDO:0014016 Tags
Green List (high evidence)	TEFM Mitochondrial disease v0.969	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)	TEFM Genetic Epilepsy v1.108	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)	TET3 Genetic Epilepsy v1.108	2 reviews 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 Metal Metabolism Disorders v0.45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 209300 Atransferrinemia 209300 Atransferrinemia, Hypoferritinaemia Tags
Green List (high evidence)	TFAM Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Tags
Green List (high evidence)	TFE3 Genetic Epilepsy v1.108	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 Expert list 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 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 Tags
Green List (high evidence)	TFG Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 57, autosomal recessive, MIM# 615658 Tags
Green List (high evidence)	TFR2 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 604250 Hemochromatosis, type 3 HFE3 604250 HEMOCHROMATOSIS, TYPE 3 Tags
Green List (high evidence)	TH Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Segawa syndrome, recessive, MIM# 605407 MONDO:0011551 Tags
Green List (high evidence)	TH Neurotransmitter Defects v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Segawa syndrome, recessive , MIM#605407 Tags
Green List (high evidence)	TH Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Tyrosine hydroxylase deficiency MONDO:0100064 Tags
Green List (high evidence)	THAP1 Dystonia - isolated/combined v1.37	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 6, torsion, 602629 Dystonia MONDO:0011264 Tags
Green List (high evidence)	THG1L Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia with developmental delay Tags
Green List (high evidence)	TIAM1 Genetic Epilepsy v1.108	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)	TIMM50 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 3-methylglutaconic aciduria, type IX, MIM# 617698 Tags
Green List (high evidence)	TIMM50 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes 3-methylglutaconic aciduria, type IX, MIM#617698 Tags
Green List (high evidence)	TIMM8A Mitochondrial disease v0.969	2 reviews 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TIMM8A Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Green List (high evidence)	TIMMDC1 Mitochondrial disease v0.969	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 31 MIM#618251 Tags deep intronic
Green List (high evidence)	TINF2 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal dominant dyskeratosis congenita 3, 613990 Revesz syndrome, 268130 Tags
Green List (high evidence)	TINF2 Brain Calcification v1.99	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Revesz syndrome, MIM# 268130 Tags
Green List (high evidence)	TK2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green List (high evidence)	TK2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	TK2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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)	TMEM106B Leukodystrophy - paediatric v0.318	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating 16, MIM#617964 Tags
Green List (high evidence)	TMEM106B Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating leukodystrophy 16, 617964 Tags
Green List (high evidence)	TMEM126A Mitochondrial disease v0.969	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of complex I subunits and assembly factors autosomal recessive optic atrophy, OPA7 type MONDO:0013069 Tags
Green List (high evidence)	TMEM126B Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 Tags
Green List (high evidence)	TMEM126B Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250 Tags
Green List (high evidence)	TMEM163 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green List (high evidence)	TMEM163 Leukodystrophy - paediatric v0.318	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 Congenital Disorders of Glycosylation v1.58	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)	TMEM199 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIp MIM# 616829 Tags
Green List (high evidence)	TMEM216 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 2, MIM# 608091 Tags
Green List (high evidence)	TMEM222 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470 Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags
Green List (high evidence)	TMEM237 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green List (high evidence)	TMEM240 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 21, MIM# 607454 Tags
Green List (high evidence)	TMEM240 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green List (high evidence)	TMEM5 Congenital Disorders of Glycosylation v1.58	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, MONDO:0014022 Tags new gene name
Green List (high evidence)	TMEM63A Leukodystrophy - paediatric v0.318	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Tags
Green List (high evidence)	TMEM63B Genetic Epilepsy v1.108	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 Hereditary Spastic Paraplegia - paediatric v1.86	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 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 6, MIM# 610688 Tags
Green List (high evidence)	TMEM70 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMPRSS6 Metal Metabolism Disorders v0.45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes IRIDA 206200 Iron-refractory iron deficiency anemia 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA Tags
Green List (high evidence)	TMTC3 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 8, MIM#617255 Tags
Green List (high evidence)	TMX2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Microcephaly ID brain malformations seizures Tags
Green List (high evidence)	TNPO2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green List (high evidence)	TNPO2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green List (high evidence)	TNPO3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green List (high evidence)	TOP3A Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	TOR1A Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal dominant or sporadic dystonia (DYT1) Early-Onset Primary Dystonia Dystonia-1, torsion, 128100 Tags
Green List (high evidence)	TPK1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Dystonia Tags
Green List (high evidence)	TPK1 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TPK1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Tags
Green List (high evidence)	TPP1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 Parkinsonism Tags
Green List (high evidence)	TPP1 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Tags
Green List (high evidence)	TPP1 Lysosomal Storage Disorder v1.13	1 review 1 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)	TPP1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270 Neuronal ceroid lipofuscinosis, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500 Tags
Green List (high evidence)	TPP2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green List (high evidence)	TRA2B Genetic Epilepsy v1.108	2 reviews 2 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)	TRAK1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 68, MIM# 618201 Tags
Green List (high evidence)	TRAK1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 68, MIM# 618201 Tags
Green List (high evidence)	TRAPPC10 Genetic Epilepsy v1.108	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green List (high evidence)	TRAPPC12 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 Tags
Green List (high evidence)	TRAPPC4 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Tags
Green List (high evidence)	TRAPPC6B Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green List (high evidence)	TRAPPC9 Congenital Disorders of Glycosylation v1.58	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 13 MIM#613192 Tags
Green List (high evidence)	TREM2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship 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)	TREM2 Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 Tags
Green List (high evidence)	TREM2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Tags
Green List (high evidence)	TREM2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MIM#618193 Tags
Green List (high evidence)	TREX1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0008641 Tags
Green List (high evidence)	TREX1 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	TREX1 Dystonia - complex v0.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750 Tags
Green List (high evidence)	TREX1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Disorder of nucleotide metabolism Tags
Green List (high evidence)	TREX1 Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Tags
Green List (high evidence)	TREX1 Leukodystrophy - paediatric v0.318	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green List (high evidence)	TREX1 Brain Calcification v1.99	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green List (high evidence)	TRIM2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2R, MIM# 615490 MONDO:0014208 HMSN Tags
Green List (high evidence)	TRIM32 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Green List (high evidence)	TRIM37 Peroxisomal Disorders v0.54	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	TRIM8 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures Tags
Green List (high evidence)	TRIO Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Tags
Green List (high evidence)	TRIP4 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Green List (high evidence)	TRIT1 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green List (high evidence)	TRIT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 35 MIM#617873 Tags
Green List (high evidence)	TRMT1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Tags
Green List (high evidence)	TRMT10A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 Tags
Green List (high evidence)	TRMT10C Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	TRMT5 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 26, MIM# 616539 Tags
Green List (high evidence)	TRMU Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TRNT1 Mitochondrial disease v0.969	2 reviews 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TRPM3 Genetic Epilepsy v1.108	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 Tags
Green List (high evidence)	TRPM3 Dystonia - complex v0.272	2 reviews 2 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 Tags
Green List (high evidence)	TRPM6 Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism Tags
Green List (high evidence)	TRPM6 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypomagnesemia 1, intestinal, MIM#602014 Tags
Green List (high evidence)	TRPM7 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Tags
Green List (high evidence)	TRPV4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Hereditary motor and sensory neuropathy, type IIc, MIM# 606071 Neuronopathy, distal hereditary motor, type VIII, MIM# 600175 Tags
Green List (high evidence)	TRRAP Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental delay with or without dysmorphic facies and autism, MIM#618454 Tags
Green List (high evidence)	TSC1 Brain Calcification v1.99	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis 1, MIM# 191100 Tags
Green List (high evidence)	TSC1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Tuberous sclerosis 1, MIM# 191100 Tags
Green List (high evidence)	TSC2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Tuberous sclerosis 2, MIM# 613254 Tags
Green List (high evidence)	TSC2 Brain Calcification v1.99	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis 2, MIM# 613254 Tags
Green List (high evidence)	TSEN2 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Pontocerebellar hypoplasia, type 2F, MIM#617026 Tags
Green List (high evidence)	TSEN54 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2A, MIM# 277470 Tags
Green List (high evidence)	TSFM Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TSFM Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green List (high evidence)	TSFM Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Combined oxidative phosphorylation deficiency 3 Tags
Green List (high evidence)	TSFM Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green List (high evidence)	TSPOAP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, intellectual disability and cerebellar atrophy Tags
Green List (high evidence)	TSPOAP1 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 22, MIM# 620453 Tags
Green List (high evidence)	TSPYL1 Genetic Epilepsy v1.108	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Sudden infant death with dysgenesis of the testes syndrome - 608800 sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 Tags
Green List (high evidence)	TTBK2 Ataxia - adult onset v1.18	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 11, 604432 Spinocerebellar ataxia 11 Tags
Green List (high evidence)	TTC19 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TTC19 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green List (high evidence)	TTI1 Ataxia - paediatric v1.30	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green List (high evidence)	TTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes dilated cardiomyopathy Distal myopathy HMERF Myofibrillar myopathy Congenital myopathy Muscular dystrophy, limb-girdle, type 2J, 608807 arthrogryposis Tags
Green List (high evidence)	TTPA Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Ataxia with isolated vitamin E deficiency, MIM# 277460 Tags
Green List (high evidence)	TTPA Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Ataxia with isolated vitamin E deficiency, 277460 Tags
Green List (high evidence)	TTPA Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ataxia with isolated vitamin E deficiency MIM#277460 disorders of vitamins and cofactors Tags
Green List (high evidence)	TTPA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia with vitamin E deficiency Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa Tags
Green List (high evidence)	TTR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Tags
Green List (high evidence)	TTR Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210 Cardiomyopathy Amyloidogenic transthyretin amyloidosis HSAN/SFN Tags
Green List (high evidence)	TTR Pain syndromes v0.34	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Hereditary amyloidosis Amyloidosis, hereditary, transthyretin-related, 105210 Familial amyloid polyneuropathy Carpal tunnel syndrome, familial, 115430 Tags
Green List (high evidence)	TUBA1A Genetic Epilepsy v1.108	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, MIM# 611603 Tags
Green List (high evidence)	TUBA4A Early-onset Dementia v1.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 Tags
Green List (high evidence)	TUBA4A Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 Tags
Green List (high evidence)	TUBA4A Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBA4A Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBA4A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBA4A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBB Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771 Tags
Green List (high evidence)	TUBB2A Genetic Epilepsy v1.108	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Cortical dysplasia, complex, with other brain malformations 5, MIM#615763 Tags
Green List (high evidence)	TUBB2B Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 Tags
Green List (high evidence)	TUBB3 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Tags
Green List (high evidence)	TUBB3 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fibrosis of extraocular muscles, congenital, 3A (MIM#600638) Neuropathy Tags
Green List (high evidence)	TUBB4A Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 6, MIM# 612438 Tags
Green List (high evidence)	TUBB4A Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Tags
Green List (high evidence)	TUBB4A Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 Dystonia 4, torsion, autosomal dominant, 128101 Tags
Green List (high evidence)	TUBB4A Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes hereditary whispering dysphonia Dystonia 4, torsion, autosomal dominant, 128101 Dystonia Tags
Green List (high evidence)	TUBB4A Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 6, MIM#612438 Tags
Green List (high evidence)	TUBB4A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 6, MIM# 612438 Tags
Green List (high evidence)	TUBG1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412 Tags
Green List (high evidence)	TUBGCP2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737 Tags
Green List (high evidence)	TUBGCP6 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270 Epilepsy Tags
Green List (high evidence)	TUFM Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 4, OMIM #610678 MONDO:0012534 Tags
Green List (high evidence)	TUFM Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 4, MIM# 610678 Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TUSC3 Congenital Disorders of Glycosylation v1.58	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)	TWNK Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green List (high evidence)	TWNK Mitochondrial disease v0.969	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	TWNK Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green List (high evidence)	TWNK Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 7, 271245 Ataxia Neuropathy Spectrum Disorders, Dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Spinocerebellar Ataxia, Recessive Tags
Green List (high evidence)	TWNK Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome (MIM#616138) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286 Tags
Green List (high evidence)	TWNK Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green List (high evidence)	TYMP Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Tags
Green List (high evidence)	TYMP Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) HMSN Tags
Green List (high evidence)	TYMP Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TYMP Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Tags
Green List (high evidence)	TYROBP Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 Tags
Green List (high evidence)	TYROBP Brain Calcification v1.99	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770 Tags
Green List (high evidence)	TYROBP Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770) Tags
Green List (high evidence)	U2AF2 Genetic Epilepsy v1.108	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Literature Phenotypes Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Green List (high evidence)	UBA1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Spinal muscular atrophy, X-linked 2, MIM# 301830 Tags
Green List (high evidence)	UBA5 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Green List (high evidence)	UBAP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Childhood-onset hereditary spastic paraplegia Spastic paraplegia 80, autosomal dominant 618418 Tags
Green List (high evidence)	UBAP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Spastic paraplegia 80, autosomal dominant 618418 Tags
Green List (high evidence)	UBAP2L Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494 Delayed speech and language development Motor delay Intellectual disability Autistic behavior Seizures Microcephaly Abnormality of head or neck Short stature Abnormality of the skeletal system Tags
Green List (high evidence)	UBE2A Genetic Epilepsy v1.108	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860 Tags
Green List (high evidence)	UBE3A Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Angelman syndrome, MIM#105830 Tags
Green List (high evidence)	UBQLN2 Motor Neurone Disease v1.27	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 Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis type 15 (MONDO:0010459 MIM#300857) Tags
Green List (high evidence)	UBQLN2 Early-onset Dementia v1.29	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 Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857) Tags
Green List (high evidence)	UBR5 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	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 Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green List (high evidence)	UBTF Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green List (high evidence)	UBTF Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 Parkinsonism Dystonia Chorea Brain atrophy Tags
Green List (high evidence)	UCHL1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green List (high evidence)	UCHL1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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)	UCHL1 Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 79, autosomal recessive, MIM#615491 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green List (high evidence)	UFM1 Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 14 617899 Tags
Green List (high evidence)	UFM1 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leukodystrophy, hypomyelinating, 14, MIM# 617899 Tags
Green List (high evidence)	UFSP2 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 106, MIM# 620028 Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder
Green List (high evidence)	UGDH Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green List (high evidence)	UGP2 Genetic Epilepsy v1.108	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 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review 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)	UMPS Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Orotic aciduria, MIM# 258900 Tags
Green List (high evidence)	UMPS Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Orotic aciduria - 258900 Epilepsy Tags
Green List (high evidence)	UNC13A Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, UNC13A-related Tags
Green List (high evidence)	UNC45B Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Myofibrillar myopathy 11 (MIM#619178) Tags
Green List (high evidence)	UNC79 Genetic Epilepsy v1.108	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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Green List (high evidence)	UPB1 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Beta-ureidopropionase deficiency, MIM# 613161 Tags
Green List (high evidence)	UQCC2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags
Green List (high evidence)	UQCRB Mitochondrial disease v0.969	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158 Tags
Green List (high evidence)	UQCRC2 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160 Tags
Green List (high evidence)	UQCRFS1 Mitochondrial disease v0.969	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)	USP18 Brain Calcification v1.99	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pseudo-TORCH syndrome 2, MIM# 617397 Tags
Green List (high evidence)	USP18 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pseudo-TORCH syndrome 2, MIM#617397 Tags treatable
Green List (high evidence)	USP25 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064 Tags
Green List (high evidence)	VAC14 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Striatonigral degeneration, childhood-onset, MIM# 617054 Dystonia Parkinsonism Tags
Green List (high evidence)	VAC14 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Striatonigral degeneration, childhood-onset 617054 Tags
Green List (high evidence)	VAMP2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Dystonia Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green List (high evidence)	VAMP2 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green List (high evidence)	VAPB Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980) Amyotrophic lateral sclerosis 8 Tags founder
Green List (high evidence)	VAPB Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Adult proximal spinal muscular atrophy, autosomal dominant dHMN/dSMA Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Tags
Green List (high evidence)	VARS Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM #617802 Tags
Green List (high evidence)	VARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 20 OMIM #615917 Tags
Green List (high evidence)	VARS2 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Expert list Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 20, 615917 Epilepsy Tags
Green List (high evidence)	VCP Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954) Tags
Green List (high evidence)	VCP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green List (high evidence)	VCP Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 Tags
Green List (high evidence)	VCP Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954) Tags
Green List (high evidence)	VCP Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Tags
Green List (high evidence)	VCP Mitochondrial disease v0.969	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Disorders of mitochondrial protein quality control Tags
Green List (high evidence)	VIPAS39 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404 Tags
Green List (high evidence)	VLDLR Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Green List (high evidence)	VMA21 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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 Green Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags deep intronic
Green List (high evidence)	VMA21 Congenital Disorders of Glycosylation v1.58	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags
Green List (high evidence)	VPS11 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green List (high evidence)	VPS11 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green List (high evidence)	VPS13A Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Choreoacanthocytosis MIM#200150 Tags
Green List (high evidence)	VPS13A Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Choreoacanthocytosis MIM#200150 Tags
Green List (high evidence)	VPS13A Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes complex parkinsonism Choreoacanthocytosis 200150 Tags
Green List (high evidence)	VPS13A Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes chorea-acanthocytosis MONDO:0008695 Tags
Green List (high evidence)	VPS13A Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes chorea-acanthocytosis MONDO:0008695 Tags
Green List (high evidence)	VPS13C Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes autosomal recessive early-onset Parkinson disease 23 MONDO:0014796 Tags
Green List (high evidence)	VPS13C Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Early-onset Parkinson disease-23, MIM# 616840 Tags
Green List (high evidence)	VPS13C Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Parkinson disease 23, autosomal recessive, early onset MIM#616840 Tags
Green List (high evidence)	VPS13D Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green List (high evidence)	VPS13D Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green List (high evidence)	VPS13D Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Green List (high evidence)	VPS16 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 30, MIM#619291 Tags
Green List (high evidence)	VPS16 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Dystonia 30, MIM#619291 Tags
Green List (high evidence)	VPS16 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Tags
Green List (high evidence)	VPS33A Lysosomal Storage Disorder v1.13	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 Lysosomal Storage Disorder v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085 Tags
Green List (high evidence)	VPS35 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes {Parkinson disease 17} MIM#614203 Cognitive decline Tags
Green List (high evidence)	VPS35 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 17, MIM# 614203 Tags
Green List (high evidence)	VPS41 Ataxia - paediatric v1.30	2 reviews 2 green	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)	VPS41 Dystonia - complex v0.272	1 review 1 green	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)	VPS4A Genetic Epilepsy v1.108	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CIMDAG syndrome MIM# 619273 Tags
Green List (high evidence)	VPS4A Dystonia - complex v0.272	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 Genetic Epilepsy v1.108	3 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)	VRK1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Tags
Green List (high evidence)	VWA1 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary motor neuropathy Tags
Green List (high evidence)	WAC Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Desanto-Shinawi syndrome MIM#616708 Tags
Green List (high evidence)	WARS Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Tags
Green List (high evidence)	WARS2 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Tags
Green List (high evidence)	WARS2 Mitochondrial disease v0.969	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	WARS2 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green List (high evidence)	WARS2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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)	WARS2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green List (high evidence)	WARS2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review 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)	WASF1 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Tags
Green List (high evidence)	WASHC5 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 MONDO:0011339 Tags
Green List (high evidence)	WDR26 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Skraban-Deardorff syndrome MIM# 617616 Tags
Green List (high evidence)	WDR37 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurooculocardiogenitourinary syndrome, MIM# 618652 Tags
Green List (high evidence)	WDR45 Early-onset Parkinson disease v2.10	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 Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green List (high evidence)	WDR45 Neurodegeneration with brain iron accumulation v1.0	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 GeneReviews Expert Review Green Phenotypes Beta-propeller protein-associated neurodegeneration (BPAN) Tags
Green List (high evidence)	WDR45 Miscellaneous Metabolic Disorders v1.48	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 Expert list Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Tags
Green List (high evidence)	WDR45 Genetic Epilepsy v1.108	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 Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Rett syndrome Rett-like phenotypes Tags
Green List (high evidence)	WDR45 Early-onset Dementia v1.29	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 Expert list Phenotypes Neurodegeneration with brain iron accumulation 5 MIM#300894 Tags
Green List (high evidence)	WDR45 Dystonia - complex v0.272	0 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 Green Royal Melbourne Hospital Phenotypes Neurodegeneration with brain iron accumulation 5 300894 beta-propeller protein-associated neurodegeneration Dystonia Tags
Green List (high evidence)	WDR45 Lysosomal Storage Disorder v1.13	0 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 Green Phenotypes Disorders of autophagy X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green List (high evidence)	WDR45B Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Tags
Green List (high evidence)	WDR45B Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM#617977 Tags
Green List (high evidence)	WDR47 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Tags
Green List (high evidence)	WDR62 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 Tags
Green List (high evidence)	WDR73 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Galloway-Mowat syndrome 1, 251300 Tags
Green List (high evidence)	WDR73 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature Galloway-Mowat Syndrome 1, 251300 Tags
Green List (high evidence)	WDR73 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 1 MIM#251300 Tags
Green List (high evidence)	WDR81 Ataxia - paediatric v1.30	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Expert list Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Congenital hydrocephalus 3 with brain anomalies, 617967 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185 Tags
Green List (high evidence)	WFS1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolfram syndrome 1, 222300 Tags
Green List (high evidence)	WNK1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300 MONDO:0024309 Tags
Green List (high evidence)	WNK1 Pain syndromes v0.34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuropathy, hereditary sensory and autonomic, type II, 201300 HSAN 2 Hereditary sensory and autonomic neuropathy type IIA Tags
Green List (high evidence)	WNK3 Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Expert Review Green Phenotypes Prieto syndrome, MIM# 309610 Tags
Green List (high evidence)	WWOX Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 28, MIM# 616211 Tags SV/CNV
Green List (high evidence)	WWOX Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232 Early infantile epileptic encephalopathy 28, 616211 Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Green List (high evidence)	XDP STR Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green List (high evidence)	XDP STR Dystonia - isolated/combined v1.37	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green List (high evidence)	XK Early-onset Dementia v1.29	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Tags
Green List (high evidence)	XK Hereditary Neuropathy - complex v1.19	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Tags
Green List (high evidence)	XK Dystonia - complex v0.272	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 Expert list Phenotypes McLeod syndrome with or without chronic granulomatous disease MIM#300842 Tags
Green List (high evidence)	XPR1 Brain Calcification v1.99	2 reviews 2 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)	XPR1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 6, MIM# 616413 Tags
Green List (high evidence)	XRCC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags
Green List (high evidence)	XRCC1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags founder
Green List (high evidence)	XRCC1 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia Autosomal recessive spinocerebellar ataxia 26, 617633 Tags
Green List (high evidence)	XYLT1 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags STR SV/CNV
Green List (high evidence)	XYLT2 Congenital Disorders of Glycosylation v1.58	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloocular syndrome MIM# 605822 Tags
Green List (high evidence)	YARS Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323 MONDO:0012012 Tags
Green List (high evidence)	YARS2 Mitochondrial disease v0.969	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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)	YARS2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Tags
Green List (high evidence)	YIF1B Dystonia - complex v0.272	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)	YIF1B Genetic Epilepsy v1.108	2 reviews 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 Genetic Epilepsy v1.108	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)	YWHAG Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 56, (MIMI#617665) Tags
Green List (high evidence)	YY1 Dystonia - complex v0.272	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Gabriele-de Vries syndrome 617557 Tags
Green List (high evidence)	YY1AP1 Cerebral vascular malformations v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Grange syndrome, 602531 Tags
Green List (high evidence)	ZBTB18 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 22, MIM# 612337 Tags
Green List (high evidence)	ZBTB20 Brain Calcification v1.99	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Primrose syndrome, MIM# 259050 Tags
Green List (high evidence)	ZBTB47 Genetic Epilepsy v1.108	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)	ZDHHC9 Genetic Epilepsy v1.108	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Mental retardation, X-linked syndromic, Raymond type, MIM#300799 Tags
Green List (high evidence)	ZEB2 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags SV/CNV
Green List (high evidence)	ZFHX3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes developmental and epileptic encephalopathy MONDO:0100062 Tags
Green List (high evidence)	ZFYVE26 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Spastic paraplegia and retinal degeneration Kjellin syndrome Parkinsonism Tags
Green List (high evidence)	ZFYVE26 Lysosomal Storage Disorder v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia 15 MONDO:0010044 Tags
Green List (high evidence)	ZFYVE26 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Tags
Green List (high evidence)	ZFYVE26 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Tags
Green List (high evidence)	ZFYVE26 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 MONDO:0010044 Tags
Green List (high evidence)	ZFYVE26 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15 MIM#270700 Tags
Green List (high evidence)	ZFYVE26 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Green List (high evidence)	ZMYND11 Genetic Epilepsy v1.108	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 30 MIM# 616083 Tags
Green List (high evidence)	ZMYND8 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review 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 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Tags
Green List (high evidence)	ZNF335 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Microcephaly 10, primary, autosomal recessive (MIM#615095) Tags
Green List (high evidence)	ZNF526 Genetic Epilepsy v1.108	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green List (high evidence)	ZNF526 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green List (high evidence)	ZNHIT3 Genetic Epilepsy v1.108	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes PEHO syndrome, MIM# 260565 Tags founder
Green List (high evidence)	ZSWIM6 Genetic Epilepsy v1.108	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Acromelic frontonasal dysostosis MIM#603671 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865 Tags
Amber List (moderate evidence)	AAAS Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550 complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	AARS Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 Tags
Amber List (moderate evidence)	AARS2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 8, 614096 Leukoencephalopathy progressive with ovarian failure, 615889 Tags
Amber List (moderate evidence)	AASS Miscellaneous Metabolic Disorders v1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Hyperlysinemia, MIM# 238700 Tags disputed
Amber List (moderate evidence)	ABCC9 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability and myopathy syndrome, MIM# 619719 Tags
Amber List (moderate evidence)	ABHD16A Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 seizures myoclonic seizures developmental delay Tags
Amber List (moderate evidence)	ACADS Fatty Acid Oxidation Defects v1.14	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)	ACADS Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 MONDO:0008722 Tags
Amber List (moderate evidence)	ACADVL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert list Phenotypes VLCAD deficiency 201475 Tags
Amber List (moderate evidence)	ACBD5 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Amber List (moderate evidence)	ACSF3 Miscellaneous Metabolic Disorders v1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined malonic and methylmalonic aciduria MIM#614265 Tags
Amber List (moderate evidence)	ADA2 Cerebral vascular malformations v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Amber Phenotypes Sneddon syndrome 182410 Polyarteritis nodosa Tags
Amber List (moderate evidence)	ADAT3 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mental retardation autosomal recessive 36, 615286 Tags
Amber List (moderate evidence)	ADGRL1 Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Tags
Amber List (moderate evidence)	ADGRV1 Genetic Epilepsy v1.108	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Phenotypes Myoclonic epilepsy febrile seizures epilepsy Rolandic epilepsy Tags
Amber List (moderate evidence)	AFG3L2 Dystonia - complex v0.272	3 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Early-onset dystonia Tags
Amber List (moderate evidence)	AFG3L2 Early-onset Parkinson disease v2.10	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 28, MIM# 610246 optic atrophy spastic ataxia L-dopa-responsive parkinsonism Tags
Amber List (moderate evidence)	ALK Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spastic-dystonic diplegia Tags
Amber List (moderate evidence)	ALK Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spastic-dystonic diplegia Tags
Amber List (moderate evidence)	ANG Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753 MIM#611895) Tags
Amber List (moderate evidence)	ANO1 Cerebral vascular malformations v1.0	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moyamoya disease 7, MIM# 620687 Tags
Amber List (moderate evidence)	ANXA11 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags
Amber List (moderate evidence)	ANXA11 Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags founder
Amber List (moderate evidence)	AP1S2 Neurodegeneration with brain iron accumulation v1.0	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Expert list Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Amber List (moderate evidence)	AP3D1 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hermansky-Pudlak syndrome 10, MIM# 617050 Tags
Amber List (moderate evidence)	AP4M1 Neurodegeneration with brain iron accumulation v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Phenotypes Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Amber List (moderate evidence)	AP5Z1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 Tags
Amber List (moderate evidence)	APOE Early-onset Dementia v1.29	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 2, MIM# 104310 Tags
Amber List (moderate evidence)	APOO Mitochondrial disease v0.969	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature 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)	APP Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 1, familial, MIM# 104300 Tags
Amber List (moderate evidence)	AQP4 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber List (moderate evidence)	AQP4 Leukodystrophy - paediatric v0.318	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)	ARHGEF10 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Slowed nerve conduction velocity, AD, 608236 HMSN Tags
Amber List (moderate evidence)	ARPC3 Hereditary Neuropathy_CMT - isolated v1.51	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)	ASPH Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Exertional heat illness malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Tags
Amber List (moderate evidence)	ATG5 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Spinocerebellar ataxia, autosomal recessive 25 Tags
Amber List (moderate evidence)	ATM Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Ataxia-telangiectasia, MIM#208900 Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein Ataxia-telangiectasia syndrome Tags
Amber List (moderate evidence)	ATP11A Leukodystrophy - paediatric v0.318	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Amber List (moderate evidence)	ATP2B3 Ataxia - paediatric v1.30	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 Amber Expert list Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia, X-linked 1 Tags
Amber List (moderate evidence)	ATP2B4 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pure and complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	ATP5A1 Genetic Epilepsy v1.108	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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)	ATP5A1 Mitochondrial disease v0.969	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Mitochondrial disorder, autosomal dominant Tags new gene name
Amber List (moderate evidence)	ATP5B Mitochondrial disease v0.969	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)	ATP5B Dystonia - isolated/combined v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Inherited dystonia, MONDO:0044807, ATP5B-related Tags
Amber List (moderate evidence)	ATP5E Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags
Amber List (moderate evidence)	ATP7B Neurodegeneration with brain iron accumulation v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Phenotypes Wilson disease, MIM# 277900 Tags
Amber List (moderate evidence)	ATP7B Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Wilson disease, 277900 Tags
Amber List (moderate evidence)	B4GALNT1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 26, autosomal recessive (MIM#609195 MONDO:0012213) Tags
Amber List (moderate evidence)	B4GAT1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287 Tags
Amber List (moderate evidence)	BAG3 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Myopathy, myofibrillar, 6 (MIM#612954 MONDO:0013061) Tags
Amber List (moderate evidence)	BICD2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Tags
Amber List (moderate evidence)	BICD2 Genetic Epilepsy v1.108	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder, BICD2-related (MONDO#0700092) Tags
Amber List (moderate evidence)	C1orf194 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Charcot-Marie-Tooth disease, intermediate or demyelinating Tags
Amber List (moderate evidence)	C1R Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Literature Phenotypes Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) Leukodystrophy - adult onset Tags
Amber List (moderate evidence)	CACNB4 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 Tags
Amber List (moderate evidence)	CACNB4 Brain Channelopathies v1.3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 5, MIM#613855 Tags
Amber List (moderate evidence)	CAMK2D Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Amber List (moderate evidence)	CANVAS_ACAGG STR Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags
Amber List (moderate evidence)	CANVAS_ACAGG STR Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags
Amber List (moderate evidence)	CCDC88C Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Early-onset pure hereditary spastic paraplegia Tags
Amber List (moderate evidence)	CCDC88C Ataxia - adult onset v1.18	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes autosomal dominant spinocerebellar ataxia ?Spinocerebellar ataxia 40, 616053 Tags
Amber List (moderate evidence)	CCNF Motor Neurone Disease v1.27	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber List (moderate evidence)	CCNF Early-onset Dementia v1.29	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber List (moderate evidence)	CCT5 Pain syndromes v0.34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HSAN with spastic paraplegia Tags
Amber List (moderate evidence)	CCT5 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HMSN Tags
Amber List (moderate evidence)	CCT6A Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, CCT6A-related Tags
Amber List (moderate evidence)	CD320 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646 Disorders of cobalamin absorption, transport and metabolism Tags
Amber List (moderate evidence)	CDC42BPB Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Tags
Amber List (moderate evidence)	CDK5 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Lissencephaly 7 with cerebellar hypoplasia MIM#616342 Tags
Amber List (moderate evidence)	CEP89 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency Tags
Amber List (moderate evidence)	CHD4 Cerebral vascular malformations v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moya Moya Sifrim-Hitz-Weiss syndrome, MIM# 617159 Tags
Amber List (moderate evidence)	CHD8 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, CHD8-related, MIM#615032 Dystonia Tags
Amber List (moderate evidence)	CHKB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 recurrent rhabdomyolysis CHKB-Related Muscular Dystrophy Tags
Amber List (moderate evidence)	CHKB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 CHKB-Related Muscular Dystrophy Tags
Amber List (moderate evidence)	CHMP3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Tags
Amber List (moderate evidence)	CHP1 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM #618438 Tags
Amber List (moderate evidence)	CHP1 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM #618438 Tags
Amber List (moderate evidence)	CIZ1 Dystonia - isolated/combined v1.37	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Dystonia 23, 614860 Tags
Amber List (moderate evidence)	CLCN7 Lysosomal Storage Disorder v1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Tags
Amber List (moderate evidence)	CLTCL1 Pain syndromes v0.34	1 review	Unknown	Sources Expert Review Amber Literaure Review Genomics England PanelApp Phenotypes Congenital insensitivity to pain Tags
Amber List (moderate evidence)	CMPK2 Brain Calcification v1.99	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Tags
Amber List (moderate evidence)	CMPK2 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Tags
Amber List (moderate evidence)	CNOT3 Cerebral vascular malformations v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moya Moya Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 Tags
Amber List (moderate evidence)	CNP Leukodystrophy - paediatric v0.318	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 20, MIM# 619071 Tags
Amber List (moderate evidence)	COASY Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 6, MIM# 615643 Tags
Amber List (moderate evidence)	COG3 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber List (moderate evidence)	COG3 Congenital Disorders of Glycosylation v1.58	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber List (moderate evidence)	COG4 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type IIj, MIM#613489 Tags
Amber List (moderate evidence)	COG6 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Coenzyme Q10 deficiency, primary, 6, MIM#614650 Tags
Amber List (moderate evidence)	COG8 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type IIh, 611182 Tags
Amber List (moderate evidence)	COL4A2 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Familial porencephaly MONDO:0020496 Tags
Amber List (moderate evidence)	COL6A3 Dystonia - isolated/combined v1.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Dystonia 27, MIM#616411 Tags
Amber List (moderate evidence)	COLGALT1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Green Other Phenotypes Brain small vessel disease 3 MIM#618360 Tags
Amber List (moderate evidence)	COQ6 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Coenzyme Q10 deficiency, primary, 6, MIM#614650 Tags
Amber List (moderate evidence)	COX10 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Amber List (moderate evidence)	COX10 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) Tags
Amber List (moderate evidence)	COX14 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053 Tags
Amber List (moderate evidence)	COX15 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MIM#615119 and Leigh syndrome #256000 Tags
Amber List (moderate evidence)	COX16 Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 regression seizures short stature mild dysmorphic features Fanconi anemia Tags
Amber List (moderate evidence)	COX5A Mitochondrial disease v0.969	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS 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)	CP Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
Amber List (moderate evidence)	CRAT Mitochondrial disease v0.969	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)	CRYAB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Expert list Expert Review Phenotypes Myopathy, myofibrillar, 2, MIM# 608810 Tags
Amber List (moderate evidence)	CTC1 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 Tags
Amber List (moderate evidence)	CTH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cystathioninuria MIM#219500 Tags
Amber List (moderate evidence)	CUL3 Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with or without autism or seizures, MIM# 619239 Global developmental delay Intellectual disability Seizures Abnormality of cardiovascular system morphology Abnormality of the palate Tags
Amber List (moderate evidence)	CYLD Early-onset Dementia v1.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Amber List (moderate evidence)	CYLD Motor Neurone Disease v1.27	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Amber List (moderate evidence)	CYP2U1 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 56, autosomal recessive 615030 Tags
Amber List (moderate evidence)	DALRD3 Genetic Epilepsy v1.108	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)	DARS2 Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Amber List (moderate evidence)	DCAF8 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 HMSN Tags
Amber List (moderate evidence)	DCXR Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Pentosuria MIM#260800 Disorders of pentose metabolism Tags
Amber List (moderate evidence)	DDC Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Infantile-onset parkinsonism & dystonia Bulbar dysfunction Oculogyric crisis Autonomic dysfunction Intellectual disability Tags
Amber List (moderate evidence)	DDHD1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy Tags
Amber List (moderate evidence)	DDOST Congenital Disorders of Glycosylation v1.58	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 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Amber Expert Review Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related Tags
Amber List (moderate evidence)	DHDDS Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM# 617836 Myoclonic Epilepsy Parkinsonism Ataxia Intellectual disability Tags
Amber List (moderate evidence)	DHFR Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Amber List (moderate evidence)	DHTKD1 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN Charcot Marie Tooth disease, axonal, type 2Q, 615025 2 aminoadipic 2 oxoadipic aciduria, 204750 Tags
Amber List (moderate evidence)	DMGDH Miscellaneous Metabolic Disorders v1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dimethylglycine dehydrogenase deficiency MIM#605850 Disorders and variants of other enzymes that oxidise xenobiotics Tags
Amber List (moderate evidence)	DNAJC6 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Parkinson disease 19b, early-onset, MIM#615528 Tags
Amber List (moderate evidence)	DNAJC7 Motor Neurone Disease v1.27	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	DNMT3B Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber List (moderate evidence)	DPM2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Iu, MIM#615042 Tags
Amber List (moderate evidence)	DROSHA Genetic Epilepsy v1.108	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)	DSTYK Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 23, MIM#270750 Tags founder SV/CNV
Amber List (moderate evidence)	DTYMK Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Tags
Amber List (moderate evidence)	EBP Peroxisomal Disorders v0.54	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 Amber Expert Review Phenotypes Chondrodysplasia punctata, X-linked dominant (MIM#302960) Tags
Amber List (moderate evidence)	EMILIN1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, type X, MIM# 620080 Peripheral neuropathy aortic aneurysm Tags
Amber List (moderate evidence)	EMX2 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Schizencephaly, MIM# 269160 Tags disputed
Amber List (moderate evidence)	EPM2A Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Progressive Myoclonic Epilepsy Parkinsonism Tags
Amber List (moderate evidence)	ERAL1 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Perrault syndrome 6, MIM# 617565 Tags
Amber List (moderate evidence)	ERBB4 Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 19 MIM#615515 Tags
Amber List (moderate evidence)	ERCC2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Trichothiodystrophy 1, photosensitive 601675 Tags
Amber List (moderate evidence)	ETFB Rhabdomyolysis and Metabolic Myopathy v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Glutaric acidemia IIB 231680 Tags
Amber List (moderate evidence)	ETFDH Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Phenotypes Glutaric acidemia IIC 231680 Tags
Amber List (moderate evidence)	EXOSC3 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert list Phenotypes Pontocerebellar hypoplasia, type 1B 614678 Intellectual disability Microcephaly Hypotonia Mitochondrial dysfunction Tags
Amber List (moderate evidence)	EXOSC3 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 1b dHMN/dSMA Tags
Amber List (moderate evidence)	EXOSC3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 1b Complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	FAM126A Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes HMSN Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Leukodystrophy, hypomyelinating, 5, 610532 Tags
Amber List (moderate evidence)	FAM50A Genetic Epilepsy v1.108	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 Green Literature Expert Review Amber Literature Phenotypes Mental retardation syndrome, X-linked, Armfield type (MIM #300261) Tags
Amber List (moderate evidence)	FAR1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Tags
Amber List (moderate evidence)	FBP2 Leukodystrophy - paediatric v0.318	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Leukodystrophy, childhood-onset, remitting, MIM# 619864 Tags
Amber List (moderate evidence)	FBXL4 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Amber List (moderate evidence)	FBXO38 Hereditary Neuropathy_CMT - isolated v1.51	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 dHMN/dSMA Tags
Amber List (moderate evidence)	FDX2 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900) Tags
Amber List (moderate evidence)	FDX2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Amber List (moderate evidence)	FDXR Ataxia - adult onset v1.18	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, 617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Amber List (moderate evidence)	FECH Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Amber Genomics England PanelApp Phenotypes EPP1 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 Tags
Amber List (moderate evidence)	FIG4 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945 MIM#612577) Tags
Amber List (moderate evidence)	FKRP Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 Tags
Amber List (moderate evidence)	FRA10AC1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Amber List (moderate evidence)	FXYD2 Metal Metabolism Disorders v0.45	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism Tags
Amber List (moderate evidence)	GALC Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Krabbe Disease MIM#245200 Tags
Amber List (moderate evidence)	GATAD2B Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Mental retardation, autosomal dominant 18, OMIM # 615074 Tags
Amber List (moderate evidence)	GATM Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718 Tags
Amber List (moderate evidence)	GBA Early-onset Dementia v1.29	2 reviews	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes {Lewy body dementia, susceptibility to} (MIM# 127750) Tags
Amber List (moderate evidence)	GCDH Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Glutaric aciduria, type I, MIM#231670 Tags
Amber List (moderate evidence)	GFPT1 Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Literature Phenotypes Myasthenia, congenital, 12, with tubular aggregates 610542 Leukoencephalopathy Tags
Amber List (moderate evidence)	GGT1 Miscellaneous Metabolic Disorders v1.48	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Glutathioninuria MIM#231950 Disorders of the gamma-glutamyl cycle Tags SV/CNV
Amber List (moderate evidence)	GJC2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 2, 608804, AR Spastic paraplegia 44, autosomal recessive 613206, AR Tags
Amber List (moderate evidence)	GJC2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 44, autosomal recessive, MIM# 613206 Tags
Amber List (moderate evidence)	GLA Brain Calcification v1.99	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Fabry disease, MIM# 301500 Tags
Amber List (moderate evidence)	GLT8D1 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	GMPPA Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Tags
Amber List (moderate evidence)	GPSM2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Chudley-McCullough syndrome, MIM# 604213 Tags
Amber List (moderate evidence)	GSX2 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Amber List (moderate evidence)	GTPBP2 Neurodegeneration with brain iron accumulation v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jaberi-Elahi syndrome, MIM# 617988 Tags
Amber List (moderate evidence)	HACE1 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Tags
Amber List (moderate evidence)	HADHB Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 Tags treatable
Amber List (moderate evidence)	HAL Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Histidinemia MIM#235800 Disorders of histidine, tryptophan or lysine metabolism Tags
Amber List (moderate evidence)	HARS Ataxia - paediatric v1.30	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome Tags
Amber List (moderate evidence)	HBB Cerebral vascular malformations v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Amber Phenotypes Sickle cell anemia 603903 Tags
Amber List (moderate evidence)	HCCS Genetic Epilepsy v1.108	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 Tags
Amber List (moderate evidence)	HDAC8 Genetic Epilepsy v1.108	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 Expert list Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Amber List (moderate evidence)	HEATR5B Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures Tags
Amber List (moderate evidence)	HNRNPA1 Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424 Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Amber List (moderate evidence)	HNRNPA2B1 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 Tags
Amber List (moderate evidence)	HNRNPA2B1 Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber List (moderate evidence)	HNRNPK Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Au-Kline syndrome MIM#616580 Tags
Amber List (moderate evidence)	HOXA1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 Tags
Amber List (moderate evidence)	HPRT1 Genetic Epilepsy v1.108	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Lesch-Nyhan syndrome Tags
Amber List (moderate evidence)	HSPD1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Amber List (moderate evidence)	HYAL1 Lysosomal Storage Disorder v1.13	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)	IDH3B Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Retinitis pigmentosa 46, MIM# 612572 Tags
Amber List (moderate evidence)	IRF2BPL Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 Tags
Amber List (moderate evidence)	ITM2B Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes ABri amyloidosis MONDO:0008306 Tags
Amber List (moderate evidence)	JAKMIP1 Genetic Epilepsy v1.108	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)	JMJD1C Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual disability (MONDO#0001071), JMJD1C-related Tags
Amber List (moderate evidence)	KARS Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641 MONDO:0013338) Tags
Amber List (moderate evidence)	KCNB2 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KCNB2-related Tags
Amber List (moderate evidence)	KCNJ3 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Epilepsy (MONDO#0005027), KCNJ3-related Tags
Amber List (moderate evidence)	KCNQ2 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Epileptic encephalopathy, early infantile, 7 MIM#613720 Tags
Amber List (moderate evidence)	KCNQ2 Ataxia - paediatric v1.30	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 7, 613720 Myokymia, 121200 Tags
Amber List (moderate evidence)	KHK Miscellaneous Metabolic Disorders v1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Fructosuria MIM#229800 Disorders of fructose metabolism Tags
Amber List (moderate evidence)	KIF1C Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 2, autosomal recessive, MIM# 611302 Tags
Amber List (moderate evidence)	KIF4A Genetic Epilepsy v1.108	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Phenotypes Intellectual developmental disorder, X-linked 100 MIM#300923 Tags
Amber List (moderate evidence)	KIF5A Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 10, autosomal dominant MIM#604187 Tags
Amber List (moderate evidence)	KIF5A Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670 Tags
Amber List (moderate evidence)	KLHL9 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal myopathy MONDO:0018949 Tags
Amber List (moderate evidence)	LAMB1 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cystic leukoencephalopathy Tags
Amber List (moderate evidence)	LAMP2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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 Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes Danon disease (MIM#300257) Tags
Amber List (moderate evidence)	LARGE1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 Tags
Amber List (moderate evidence)	LGALSL Motor Neurone Disease v1.27	1 review	Unknown	Sources Expert Review Amber ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber List (moderate evidence)	LMNA Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 Tags
Amber List (moderate evidence)	LMNB1 Genetic Epilepsy v1.108	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Short stature Seizures Abnormality of the corpus callosum Cortical gyral simplification Feeding difficulties Scoliosis Tags
Amber List (moderate evidence)	LMNB2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Epilepsy, progressive myoclonic, 9 MIM#616540 Tags
Amber List (moderate evidence)	LPIN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Tags
Amber List (moderate evidence)	LRIF1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber List (moderate evidence)	LRPPRC Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111) Tags
Amber List (moderate evidence)	LSM7 Leukodystrophy - paediatric v0.318	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes leukodystrophy MONDO:0019046, LRM7-related Tags
Amber List (moderate evidence)	LYRM4 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 19, MIM# 615595 Tags
Amber List (moderate evidence)	LYST Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Chediak-Higashi syndrome, MIM#214500 Tags
Amber List (moderate evidence)	LYST Hereditary Spastic Paraplegia - adult onset v1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes spastic paraplegia Spastic paraplegia Chediak-Higashi syndrome, 214500 Tags
Amber List (moderate evidence)	MAL Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 28, MIM# 620978 Tags
Amber List (moderate evidence)	MAMDC2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	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 Congenital Disorders of Glycosylation v1.58	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related Tags
Amber List (moderate evidence)	MANBA Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mannosidosis, beta, MIM#248510 Tags
Amber List (moderate evidence)	MAPK8IP3 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443 Tags
Amber List (moderate evidence)	MAPK8IP3 Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Tags
Amber List (moderate evidence)	MAPT Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Dementia, frontotemporal, with or without parkinsonism MIM#600274 Tags
Amber List (moderate evidence)	MARS Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 70, autosomal recessive, MIM# 620323 Tags
Amber List (moderate evidence)	MARS2 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390 Tags
Amber List (moderate evidence)	MATR3 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 21 MIM#606070 frontotemporal dementia multisystem proteinopathy Tags
Amber List (moderate evidence)	MCOLN1 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mucolipidosis IV, 252650 Tags
Amber List (moderate evidence)	MDH1 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes epilepsy microcephaly intellectual disability Epileptic encephalopathy, early infantile, 88, MIM#618959 Tags
Amber List (moderate evidence)	MFF Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 Tags
Amber List (moderate evidence)	MICAL1 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Autosomal dominant epilepsy with auditory features (ADEAF) Tags
Amber List (moderate evidence)	MKKS Ataxia - paediatric v1.30	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6, 605231 Tags
Amber List (moderate evidence)	MLC1 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MLC) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Amber List (moderate evidence)	MOCS1 Brain Calcification v1.99	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags
Amber List (moderate evidence)	MPC2 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Tags
Amber List (moderate evidence)	MRPL50 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO: 004470, MRPL50-related Tags
Amber List (moderate evidence)	MRPS14 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Combined oxidative phosphorylation deficiency 38, MIM# 618378 Tags
Amber List (moderate evidence)	MRPS16 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 2 OMIM #610498 Tags
Amber List (moderate evidence)	MRPS7 Mitochondrial disease v0.969	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 34, MIM# 617872 Tags
Amber List (moderate evidence)	MTCL1 Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes spinocerebellar ataxia Tags
Amber List (moderate evidence)	MTPAP Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672 Tags
Amber List (moderate evidence)	MYO9B Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related Tags
Amber List (moderate evidence)	NAGA Genetic Epilepsy v1.108	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Schindler disease, type I and type II 609241 Tags
Amber List (moderate evidence)	NAGLU Pain syndromes v0.34	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920 Late-onset painful sensory neuropathy, AD Tags
Amber List (moderate evidence)	NAGLU Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 HSAN/SFN Tags
Amber List (moderate evidence)	NDUFA11 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Amber List (moderate evidence)	NDUFA2 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Tags
Amber List (moderate evidence)	NDUFA2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 13 618235 leukoencephalopathy Tags
Amber List (moderate evidence)	NDUFA8 Mitochondrial disease v0.969	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)	NDUFA8 Genetic Epilepsy v1.108	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 37 - 619272 Epilepsy Microcephaly Developmental Delay Tags
Amber List (moderate evidence)	NDUFAF3 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber List (moderate evidence)	NDUFAF4 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber List (moderate evidence)	NDUFB7 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital lactic acidosis hypertrophic cardiomyopathy Tags
Amber List (moderate evidence)	NDUFB9 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Tags
Amber List (moderate evidence)	NDUFC2 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170 Tags
Amber List (moderate evidence)	NDUFS1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber List (moderate evidence)	NDUFS2 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber List (moderate evidence)	NDUFS6 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber List (moderate evidence)	NDUFS7 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leigh syndrome, MIM#256000 Tags
Amber List (moderate evidence)	NDUFV2 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Tags
Amber List (moderate evidence)	NECAP1 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy, early infantile, 21, MIM#615833 Tags
Amber List (moderate evidence)	NF1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurofibromatosis, type 1 (MIM#162200) Tags
Amber List (moderate evidence)	NHLRC1 Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 Lafora disease Progressive Myoclonic Epilepsy Parkinsonism Tags
Amber List (moderate evidence)	NMNAT2 Pain syndromes v0.34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research Genomics England PanelApp Phenotypes polyneuropathy erythromelalgia Tags
Amber List (moderate evidence)	NNT Mitochondrial disease v0.969	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Tags
Amber List (moderate evidence)	NPC2 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Niemann-pick disease, type C2 607625 Tags
Amber List (moderate evidence)	NSF Genetic Epilepsy v1.108	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)	NSUN3 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 48, MIM# 619012 Tags
Amber List (moderate evidence)	NUBPL Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, MIM#252010 Tags
Amber List (moderate evidence)	NUP54 Dystonia - complex v0.272	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)	NUS1 Congenital Disorders of Glycosylation v1.58	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1aa, MIM#610463 Tags
Amber List (moderate evidence)	OFD1 Genetic Epilepsy v1.108	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 Orofaciodigital syndrome I (MIM#311200) Tags
Amber List (moderate evidence)	OPLAH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes 5-oxoprolinase deficiency MIM#260005 Disorders of the gamma-glutamyl cycle Tags
Amber List (moderate evidence)	OTUD5 Genetic Epilepsy v1.108	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Tags
Amber List (moderate evidence)	OTUD7A Genetic Epilepsy v1.108	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Tags
Amber List (moderate evidence)	OTX2 Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microphthalmia, syndromic 5 610125 Tags
Amber List (moderate evidence)	OXA1L Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Phenotypes encephalopathy hypotonia developmental delay Tags
Amber List (moderate evidence)	P4HTM Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Amber List (moderate evidence)	PACSIN3 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, MONDO:0005336, PACSIN3-related Tags
Amber List (moderate evidence)	PAK2 Genetic Epilepsy v1.108	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Knobloch 2 syndrome MIM#618458 Tags
Amber List (moderate evidence)	PAK3 Genetic Epilepsy v1.108	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 30 (MIM#300558) Tags
Amber List (moderate evidence)	PANK2 Brain Calcification v1.99	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with brain iron accumulation 1, MIM# 234200 Tags
Amber List (moderate evidence)	PAX6 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Aniridia (MIM#106210) Tags
Amber List (moderate evidence)	PCBD1 Neurotransmitter Defects v1.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags
Amber List (moderate evidence)	PCK2 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peripheral neuropathy (MONDO#0005244), PCK2-related Tags
Amber List (moderate evidence)	PDSS2 Genetic Epilepsy v1.108	2 reviews 1 green	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Coenzyme Q10 deficiency, primary, 3, MIM#614652 Tags
Amber List (moderate evidence)	PFKM Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Glycogen storage disease VII (MIM#232800) Tags
Amber List (moderate evidence)	PGAP2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Amber List (moderate evidence)	PGM3 Genetic Epilepsy v1.108	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Idiopathic focal epilepsy Immunodeficiency 23, MIM# 615816 Tags
Amber List (moderate evidence)	PIGM Congenital Disorders of Glycosylation v1.58	2 reviews	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 portal vein thrombosis persistent absence seizures macrocephaly infantile-onset cerebrovascular thrombotic events Tags founder
Amber List (moderate evidence)	PIK3C2B Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes familial partial epilepsy - MONDO#0017704 Tags
Amber List (moderate evidence)	PKD2 Cerebral vascular malformations v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Amber Phenotypes Polycystic kidney disease 2 613095 Tags
Amber List (moderate evidence)	PLD3 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes ?Spinocerebellar ataxia 46 Tags
Amber List (moderate evidence)	PLD3 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy Tags
Amber List (moderate evidence)	PLEKHG2 Leukodystrophy - paediatric v0.318	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Expert list Expert list Phenotypes Leukodystrophy and acquired microcephaly with or without dystonia 616763 Tags
Amber List (moderate evidence)	PLP1 Hereditary Neuropathy - complex v1.19	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 Royal Melbourne Hospital Phenotypes Pelizaeus-Merzbacher disease (MIM#312080) Tags
Amber List (moderate evidence)	PMP2 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes HMSN Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 Tags
Amber List (moderate evidence)	PNPLA6 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 39, autosomal recessive, MIM# 612020 Tags
Amber List (moderate evidence)	PNPLA6 Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 Tags
Amber List (moderate evidence)	PNPT1 Ataxia - adult onset v1.18	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703 Tags
Amber List (moderate evidence)	POFUT1 Congenital Disorders of Glycosylation v1.58	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease 2 (MIM# 615327) Tags
Amber List (moderate evidence)	POLG Early-onset Dementia v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 4a MONDO:0008758 Tags
Amber List (moderate evidence)	POLG2 Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 Tags
Amber List (moderate evidence)	POLG2 Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Amber List (moderate evidence)	POLR1A Leukodystrophy - paediatric v0.318	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Leukodystrophy, hypomyelinating, 27, MIM# 620675 Tags
Amber List (moderate evidence)	POLR1A Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Acrofacial dysostosis, Cincinnati type MIM#616462 Tags
Amber List (moderate evidence)	POMGNT2 Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830 Tags
Amber List (moderate evidence)	POMK Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249 Tags
Amber List (moderate evidence)	POMK Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 Tags
Amber List (moderate evidence)	POMT2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 Tags
Amber List (moderate evidence)	POU3F3 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Literature Phenotypes Snijders Blok-Fisher syndrome MIM#618604 Tags
Amber List (moderate evidence)	PPP1CB Genetic Epilepsy v1.108	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506 Tags
Amber List (moderate evidence)	PPP2R2B Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Tags
Amber List (moderate evidence)	PPT1 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 1 256730 Tags
Amber List (moderate evidence)	PRICKLE2 Genetic Epilepsy v1.108	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Tags
Amber List (moderate evidence)	PRKCG Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Tags
Amber List (moderate evidence)	PRPH Motor Neurone Disease v1.27	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Expert list Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Tags
Amber List (moderate evidence)	PRPS1 Ataxia - adult onset v1.18	3 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 Amber Literature Phenotypes Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Tags
Amber List (moderate evidence)	PSAT1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Phosphoserine aminotransferase deficiency, MIM#610992 Tags
Amber List (moderate evidence)	PSMC3 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Amber List (moderate evidence)	PSPH Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Phosphoserine phosphatase deficiency, MIM#614023 Tags
Amber List (moderate evidence)	PTF1A Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Pancreatic and cerebellar agenesis, MIM#609069 Tags
Amber List (moderate evidence)	PTPA Early-onset Parkinson disease v2.10	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO: 36073231, PTPA-related Parkisonism Tags
Amber List (moderate evidence)	PYGM Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes McArdle disease (MIM#232600) Tags
Amber List (moderate evidence)	RAB32 Early-onset Parkinson disease v2.10	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)	RAB3GAP1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Warburg micro syndrome 1, MIM#600118 Tags
Amber List (moderate evidence)	RAB3GAP2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Martsolf syndrome, MIM#212720 Warburg micro syndrome 2, MIM#614225 Tags
Amber List (moderate evidence)	RALGAPB Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorders, autism Tags
Amber List (moderate evidence)	RBFOX3 Genetic Epilepsy v1.108	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)	RBL2 Genetic Epilepsy v1.108	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 Tags
Amber List (moderate evidence)	RBM7 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes SMA-like spinal motor neuropathy dHMN/dSMA Tags
Amber List (moderate evidence)	RFXANK Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Progressive Ataxia and Neurologic Regression MHC class II deficiency, complementation group B MIM#209920 Tags
Amber List (moderate evidence)	RNASET2 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 Tags
Amber List (moderate evidence)	RNF13 Motor Neurone Disease v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Literature Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	RNF2 Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Lou-Schoch-Yamamoto syndrome , MIM#619460 epilepsy intellectual disability intrauterine growth retardation Tags
Amber List (moderate evidence)	RNF216 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Amber List (moderate evidence)	RPIA Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Ribose 5-phosphate isomerase deficiency, MIM 608611 Tags
Amber List (moderate evidence)	RRM1 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Amber Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 Tags
Amber List (moderate evidence)	RUSC2 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Amber List (moderate evidence)	RYR3 Genetic Epilepsy v1.108	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber ClinGen Expert Review Amber Expert list Phenotypes undetermined early-onset epileptic encephalopathy (MONDO:0018614) Tags
Amber List (moderate evidence)	SACS Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Amber List (moderate evidence)	SAMHD1 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Aicardi-Goutieres syndrome 5 MIM#612952 Tags
Amber List (moderate evidence)	SARDH Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Sarcosinemia MIM#268900 Disorders of serine, glycine or glycerate metabolism Tags
Amber List (moderate evidence)	SCO1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Amber List (moderate evidence)	SCP2 Neurodegeneration with brain iron accumulation v1.0	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 Neurodegeneration with brain iron accumulation ataxia Tags
Amber List (moderate evidence)	SCP2 Peroxisomal Disorders v0.54	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)	SDHA Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Tags
Amber List (moderate evidence)	SDHA Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leigh syndrome, MIM#256000 Tags
Amber List (moderate evidence)	SEC31A Hereditary Spastic Paraplegia - paediatric v1.86	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)	SELENOI Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 81, autosomal recessive 618768 developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals Tags
Amber List (moderate evidence)	SETD5 Cerebral vascular malformations v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moya Moya Mental retardation, autosomal dominant 23, MIM# 615761 Tags
Amber List (moderate evidence)	SGMS1 Lysosomal Storage Disorder v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Amber List (moderate evidence)	SGPL1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes RENI syndrome (MIM#617575) Tags
Amber List (moderate evidence)	SHPK Miscellaneous Metabolic Disorders v1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Sedoheptulokinase deficiency MIM#617213 Tags
Amber List (moderate evidence)	SIX3 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Holoprosencephaly 2, MIM#157170 Tags
Amber List (moderate evidence)	SLC13A5 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Epileptic encephalopathy, early infantile, 25 615905 Tags
Amber List (moderate evidence)	SLC1A1 Miscellaneous Metabolic Disorders v1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Dicarboxylic aminoaciduria, MIM#222730 Tags
Amber List (moderate evidence)	SLC25A10 Mitochondrial disease v0.969	2 reviews	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 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome-18 MIM#618811 Tags
Amber List (moderate evidence)	SLC26A2 Congenital Disorders of Glycosylation v1.58	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Skeletal dysplasia (various) Tags
Amber List (moderate evidence)	SLC31A1 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Amber List (moderate evidence)	SLC35A1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Amber List (moderate evidence)	SLC35A3 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Arthrogryposis, mental retardation, and seizures OMIM #615553 Tags
Amber List (moderate evidence)	SLC35B2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, MONDO:0019046, SLC35B2-related Tags
Amber List (moderate evidence)	SLC36A2 Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperglycinuria MIM#138500 Iminoglycinuria, digenic MIM#242600 Disorders of amino acid transport Tags
Amber List (moderate evidence)	SLC39A8 Mitochondrial disease v0.969	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIn MIM#616721 Tags
Amber List (moderate evidence)	SLC45A1 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Tags
Amber List (moderate evidence)	SLC52A1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Maternal riboflavin deficiency MONDO:0014013 Tags
Amber List (moderate evidence)	SLC9A1 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Lichtenstein-Knorr Syndrome, MIM# 616291 Tags
Amber List (moderate evidence)	SLC9A7 Congenital Disorders of Glycosylation v1.58	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Intellectual developmental disorder, X-linked 108, OMIM #301024 Tags
Amber List (moderate evidence)	SMAD9 Cerebral vascular malformations v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Amber Tags
Amber List (moderate evidence)	SNIP1 Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 Tags founder
Amber List (moderate evidence)	SOX10 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neurocristopathy PCWH syndrome, MIM#609136 Complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	SPAST Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 4, autosomal dominant 182601 Tags
Amber List (moderate evidence)	SPEN Genetic Epilepsy v1.108	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome MIM#619312 Tags
Amber List (moderate evidence)	SPG7 Leukodystrophy - adult onset v0.143	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 7, autosomal recessive 607259 Tags
Amber List (moderate evidence)	SPTSSA Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	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 Mitochondrial disease v0.969	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)	SQSTM1 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437) Tags
Amber List (moderate evidence)	SQSTM1 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640 Tags
Amber List (moderate evidence)	SQSTM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 multisystem proteinopathy Tags
Amber List (moderate evidence)	SRD5A3 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Tags
Amber List (moderate evidence)	SS18L1 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes amyotrophic lateral sclerosis (MONDO:0004976) Tags
Amber List (moderate evidence)	SSR3 Congenital Disorders of Glycosylation v1.58	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation Tags
Amber List (moderate evidence)	ST3GAL3 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 15 , MIM#615006 Tags
Amber List (moderate evidence)	STX5 Congenital Disorders of Glycosylation v1.58	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)	SUCLA2 Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791 MIM#612073) ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy Tags
Amber List (moderate evidence)	SUCLG1 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400 Tags
Amber List (moderate evidence)	SUGCT Miscellaneous Metabolic Disorders v1.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Glutaric aciduria III MIM#231690 Organic acidurias Tags
Amber List (moderate evidence)	SV2A Genetic Epilepsy v1.108	2 reviews	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 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10 (MIM#619040) Tags
Amber List (moderate evidence)	SYNCRIP Genetic Epilepsy v1.108	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags
Amber List (moderate evidence)	SYNGAP1 Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal dominant mental retardation 5, 612621 Tags
Amber List (moderate evidence)	TAF15 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Frontotemporal dementia Tags
Amber List (moderate evidence)	TAF15 Motor Neurone Disease v1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	TBC1D20 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Warburg micro syndrome 4, MIM#615663 Tags
Amber List (moderate evidence)	TCEAL1 Genetic Epilepsy v1.108	3 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 Amber Literature Phenotypes Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Tags
Amber List (moderate evidence)	TDP1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber List (moderate evidence)	TDP1 Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber List (moderate evidence)	TFRC Metal Metabolism Disorders v0.45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Disorders of iron metabolism TFRC-related combined immunodeficiency MONDO:0014760 Tags
Amber List (moderate evidence)	THAP1 Neurodegeneration with brain iron accumulation v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes cervical dystonia dystonia dystonic tremor Tags
Amber List (moderate evidence)	THG1L Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28 - 618800 Epilepsy Intellectual disability Tags
Amber List (moderate evidence)	THOC2 Genetic Epilepsy v1.108	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957 Tags
Amber List (moderate evidence)	THSD1 Cerebral vascular malformations v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Amber Phenotypes subarachnoid hemorrhage Tags
Amber List (moderate evidence)	TIA1 Motor Neurone Disease v1.27	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133 Tags
Amber List (moderate evidence)	TIA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal myopathy, Welander type MONDO:0011466 Tags
Amber List (moderate evidence)	TIA1 Early-onset Dementia v1.29	1 review	Other	Sources Expert Review Amber Literature Phenotypes Multisystem proteinopathy Tags
Amber List (moderate evidence)	TIMM22 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Phenotypes hypotonia gastroesophageal reflux disease Tags
Amber List (moderate evidence)	TLK2 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 57 MIM#618050 Tags
Amber List (moderate evidence)	TMEM106B Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 16 (MIM #617964) Tags
Amber List (moderate evidence)	TMEM138 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Joubert syndrome 16, MIM# 614465 Tags
Amber List (moderate evidence)	TMEM231 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Joubert syndrome 20, MIM# 614970 Meckel syndrome 11 615397 Tags
Amber List (moderate evidence)	TMEM43 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Tags
Amber List (moderate evidence)	TMEM65 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Phenotypes Mitochondrial encephalomyopathy Tags
Amber List (moderate evidence)	TMEM70 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 Tags
Amber List (moderate evidence)	TNK2 Genetic Epilepsy v1.108	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes severe infantile onset epilepsy Tags
Amber List (moderate evidence)	TNNT1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 5, Amish type MIM#605355 Tags
Amber List (moderate evidence)	TOMM7 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Garg-Mishra progeroid syndrome, MIM# 620601 Tags
Amber List (moderate evidence)	TOMM70 Leukodystrophy - paediatric v0.318	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes White matter abnormalities Developmental delay Regression Movement disorder Tags
Amber List (moderate evidence)	TOMM70 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe anaemia Lactic acidosis Developmental delay Tags
Amber List (moderate evidence)	TRAF7 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 Tags
Amber List (moderate evidence)	TRAPPC11 Congenital Disorders of Glycosylation v1.58	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 Tags
Amber List (moderate evidence)	TRIP12 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 49 MIM#617752 Tags
Amber List (moderate evidence)	TRIP13 Genetic Epilepsy v1.108	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags founder
Amber List (moderate evidence)	TRPA1 Pain syndromes v0.34	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Familial episodic pain syndrome type I Episodic pain syndrome, familial, 615040 Tags
Amber List (moderate evidence)	TRPC3 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Tags
Amber List (moderate evidence)	TRPV1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Exertional heat stroke rhabdomyolysis Tags
Amber List (moderate evidence)	TSEN15 Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia, type 2F MIM#617026 Tags
Amber List (moderate evidence)	TUBB4A Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Royal Melbourne Hospital Phenotypes ataxia Leukodystrophy, hypomyelinating, 612438 AD Dystonia 4, torsion, autosomal dominant, 128101 Tags
Amber List (moderate evidence)	TWNK Leukodystrophy - paediatric v0.318	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 Tags
Amber List (moderate evidence)	TWNK Leukodystrophy - adult onset v0.143	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 Perrault syndrome 5 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 Tags
Amber List (moderate evidence)	TXN2 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 29, MIM# 616811 Tags
Amber List (moderate evidence)	UBA5 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes ?Autosomal recessive spinocerebellar ataxia 24, 617133 Early infantile epileptic encephalopathy 44, 617132 Tags
Amber List (moderate evidence)	UBA5 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypomyelinating neuropathy Tags
Amber List (moderate evidence)	UBQLN4 Motor Neurone Disease v1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	UBR4 Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Episodic ataxia Episodic ataxia type 8, 616055 Tags
Amber List (moderate evidence)	UBTF Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Tags
Amber List (moderate evidence)	UNC80 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Tags
Amber List (moderate evidence)	UQCC3 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Tags
Amber List (moderate evidence)	UQCRC1 Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parkinsonism with polyneuropathy, MIM# 619279 Tags
Amber List (moderate evidence)	UQCRH Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Tags
Amber List (moderate evidence)	UROC1 Miscellaneous Metabolic Disorders v1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Urocanase deficiency, MIM#276880 Tags
Amber List (moderate evidence)	USMG5 Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Tags
Amber List (moderate evidence)	USP8 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	VAMP1 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Amber List (moderate evidence)	VAMP1 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber List (moderate evidence)	VAMP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber List (moderate evidence)	VAMP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Amber List (moderate evidence)	VLDLR Genetic Epilepsy v1.108	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050 Tags
Amber List (moderate evidence)	VPS37A Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR Tags
Amber List (moderate evidence)	VRK1 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pontocerebellar hypoplasia type 1A, 607596 Tags
Amber List (moderate evidence)	VRK1 Motor Neurone Disease v1.27	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia Distal hereditary motor neuropathy dHMN/dSMA Tags
Amber List (moderate evidence)	WARS Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type IX, MIM#617721 Tags
Amber List (moderate evidence)	WDR45 Brain Calcification v1.99	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 Expert list Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Tags
Amber List (moderate evidence)	XPR1 Genetic Epilepsy v1.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Basal ganglia calcification, idiopathic, 6 MIM#616413 Tags
Amber List (moderate evidence)	YME1L1 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Amber NHS GMS Phenotypes Optic atrophy 11 MIM#617302 Tags
Amber List (moderate evidence)	ZFYVE26 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal recessive spastic paraplegia 15, 270700 Tags
Amber List (moderate evidence)	ZMIZ1 Genetic Epilepsy v1.108	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659 Tags
Red List (low evidence)	ABCC6 Cerebral vascular malformations v1.0	1 review 1 red	Unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Moyamoya disease Tags
Red List (low evidence)	ABCD3 Peroxisomal Disorders v0.54	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 5 (MIM#616278) Tags
Red List (low evidence)	ACADL Fatty Acid Oxidation Defects v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pulmonary surfactant dysfunction Tags disputed
Red List (low evidence)	ACE Cerebral vascular malformations v1.0	1 review 1 red	Not set	Sources Genomics England PanelApp Expert Review Red Phenotypes {Stroke, hemorrhagic} Tags
Red List (low evidence)	ACOX1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Pseudoneonatal adrenoleukodystrophy Tags
Red List (low evidence)	ACSL5 Fatty Acid Oxidation Defects v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Diarrhoea 13, MIM# 620357 Tags
Red List (low evidence)	ADCY5 Genetic Epilepsy v1.108	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dyskinesia with orofacial involvement MIM#606703 Tags
Red List (low evidence)	ADGRG1 Cerebral vascular malformations v1.0	1 review 1 red	Not set	Sources Expert Review Red Genomics England PanelApp Phenotypes bilateral frontoparietal polymicrogyria MONDO:0011738 Tags
Red List (low evidence)	ADRA2B Genetic Epilepsy v1.108	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cortical myoclonus and epilepsy Tags
Red List (low evidence)	AFDN Genetic Epilepsy v1.108	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Epilepsy, MONDO:0015653 Tags SV/CNV
Red List (low evidence)	AFG3L2 Neurodegeneration with brain iron accumulation v1.0	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487 Spinocerebellar ataxia 28, MIM# 610246 Tags
Red List (low evidence)	AFG3L2 Genetic Epilepsy v1.108	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Red List (low evidence)	AGO3 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual disability Tags
Red List (low evidence)	AIFM1 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	AIMP2 Leukodystrophy - paediatric v0.318	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Expert list Phenotypes Leukodystrophy, hypomyelinating, 17 618006 Tags
Red List (low evidence)	ALDOB Glycogen Storage Diseases v1.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags
Red List (low evidence)	ALG10 Genetic Epilepsy v1.108	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)	ALG10 Congenital Disorders of Glycosylation v1.58	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)	ALG12 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig OMIM: 607144 Tags
Red List (low evidence)	ALG2 Genetic Epilepsy v1.108	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Literature Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags
Red List (low evidence)	ALG2 Congenital Disorders of Glycosylation v1.58	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ii (MIM# 607906) Tags
Red List (low evidence)	ALPL Neurotransmitter Defects v1.7	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypophosphatasia Tags
Red List (low evidence)	ALPL Early-onset Parkinson disease v2.10	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 Red Literature Phenotypes Hypophosphatasia, adult, MIM# 146300 Osteomalacia Parkinsonism Tags
Red List (low evidence)	ALS2 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	ALX4 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert Review Phenotypes Parietal foramina 2, MIM# 609597 Tags
Red List (low evidence)	AMACR Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes rhabdomyolysis Tags
Red List (low evidence)	AMPD1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myopathy due to myoadenylate deaminase deficiency 615511 Rhabdomyolysis Tags disputed
Red List (low evidence)	AMPD2 Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI Tags
Red List (low evidence)	AMPD2 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Expert Review Red Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, 615809 Tags
Red List (low evidence)	AMPD2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia 63 MIM#615686 Tags
Red List (low evidence)	ANG Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	ANG Early-onset Parkinson disease v2.10	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Parkinson disease MONDO:0005180 Tags
Red List (low evidence)	ANTXR1 Cerebral vascular malformations v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes GAPO syndrome MONDO:0009263 Tags
Red List (low evidence)	APOPT1 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Red List (low evidence)	ARHGEF9 Neurotransmitter Defects v1.7	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 8, MIM# 300607 Tags
Red List (low evidence)	ARL6 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 3, 600151 Tags
Red List (low evidence)	ARMC9 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Royal Melbourne Hospital Phenotypes Joubert syndrome 30, MIM#617622 Tags
Red List (low evidence)	ARPP21 Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Red List (low evidence)	ARSI Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Childhood onset spastic paraplegia Tags
Red List (low evidence)	ARX Cerebral vascular malformations v1.0	1 review 1 red	Not set	Sources Expert Review Red Genomics England PanelApp Phenotypes Cerebral Malformation Disorders Tags
Red List (low evidence)	ASAH1 Motor Neurone Disease v1.27	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Red List (low evidence)	ATN1 Brain Calcification v1.99	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Dentatorubral-pallidoluysian atrophy, MIM# 125370 Tags STR
Red List (low evidence)	ATP1A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Phenotypes Hereditary spastic paraplegia Tags
Red List (low evidence)	ATP1A2 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Alternating hemiplegia of childhood 1, 104290 Familial hemiplegic migraine 2, 602481 Tags
Red List (low evidence)	ATP5F1 Mitochondrial disease v0.969	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Tags
Red List (low evidence)	ATP5G3 Genetic Epilepsy v1.108	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Dystonia, early-onset, and/or spastic paraplegia MIM#619681 Tags
Red List (low evidence)	ATP7A Motor Neurone Disease v1.27	3 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489 Tags
Red List (low evidence)	ATP7B Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	ATP7B Ataxia - adult onset v1.18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Wilson disease 277900 Wilson disease, 277900 Tags
Red List (low evidence)	ATPAF2 Mitochondrial disease v0.969	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Tags
Red List (low evidence)	ATPAF2 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Red List (low evidence)	ATR Cerebral vascular malformations v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Seckel syndrome 1 210600 Tags
Red List (low evidence)	AUTS2 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Intellectual developmental disorder, autosomal dominant 26 MIM#615834 Tags
Red List (low evidence)	BANF1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related Tags
Red List (low evidence)	BBS10 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, 615987 Tags
Red List (low evidence)	BBS12 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, 615989 Tags
Red List (low evidence)	BBS2 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, 615981 Tags
Red List (low evidence)	BBS4 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, 615982 Tags
Red List (low evidence)	BBS5 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, 615983 Tags
Red List (low evidence)	BBS7 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, 615984 Tags
Red List (low evidence)	BBS9 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, 615986 Tags
Red List (low evidence)	BCL11A Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Red List (low evidence)	BET1 Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Tags
Red List (low evidence)	BICD2 Motor Neurone Disease v1.27	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 Tags
Red List (low evidence)	BRCC3 Cerebral vascular malformations v1.0	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 Genomics England PanelApp Phenotypes Moyamoya disease Tags
Red List (low evidence)	BTD Brain Calcification v1.99	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Biotinidase deficiency, MIM# 253260 Tags
Red List (low evidence)	C19orf12 Genetic Epilepsy v1.108	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neurodegeneration with brain iron accumulation 4 MIM#614298 Tags
Red List (low evidence)	C1QB Brain Calcification v1.99	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes C1q deficiency, MIM# 613652 Tags
Red List (low evidence)	CACNA1B Dystonia - isolated/combined v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Myoclonus-dystonia syndrome MONDO:0000903 Tags
Red List (low evidence)	CACNA1S Brain Channelopathies v1.3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypokalemic periodic paralysis, type 1, MIM# 170400 Tags
Red List (low evidence)	CACNB4 Ataxia - adult onset v1.18	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Episodic ataxia type 5, 613855 Tags
Red List (low evidence)	CAMLG Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation type IIz, OMIM #: 620201 Tags
Red List (low evidence)	CAMLG Congenital Disorders of Glycosylation v1.58	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)	CAMTA1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756 Tags
Red List (low evidence)	CCDC186 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epileptic encephalopathy Tags
Red List (low evidence)	CCDC22 Genetic Epilepsy v1.108	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Ritscher-Schinzel syndrome 2 MIM#300963 Tags
Red List (low evidence)	CCDC28B Ataxia - paediatric v1.30	3 reviews 2 red	Other	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red List (low evidence)	CCM2 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert Review Phenotypes Cerebral cavernous malformations-2, MIM#603284 Tags
Red List (low evidence)	CCND2 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Tags
Red List (low evidence)	CCT5 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia Sensory Neuropathy with Spastic Paraplegia Tags
Red List (low evidence)	CENPF Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Stromme syndrome MIM#243605 Tags
Red List (low evidence)	CENPJ Cerebral vascular malformations v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Red Phenotypes Seckel syndrome 4 613676 Tags
Red List (low evidence)	CEP152 Cerebral vascular malformations v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Seckel syndrome 5 613823 Tags
Red List (low evidence)	CEP63 Cerebral vascular malformations v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Seckel syndrome 6 614728 Tags
Red List (low evidence)	CHCHD10 Ataxia - adult onset v1.18	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Red List (low evidence)	CHMP1A Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Red List (low evidence)	CHMP2B Dystonia - complex v0.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes familial frontotemporal lobar degeneration (ALS17) Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Dystonia Tags
Red List (low evidence)	CHRM1 Genetic Epilepsy v1.108	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Expert Review Amber Literature Phenotypes Neurodevelopmental disorder intellectual disability autism epilepsy Tags
Red List (low evidence)	CHRNA7 Genetic Epilepsy v1.108	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 Congenital Disorders of Glycosylation v1.58	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peeling Skin Syndrome Tags
Red List (low evidence)	CLASP1 Genetic Epilepsy v1.108	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)	CLCN2 Genetic Epilepsy v1.108	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags refuted
Red List (low evidence)	CLPP Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 3 MIM#614129 Tags
Red List (low evidence)	COA3 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058 Tags
Red List (low evidence)	COA5 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red List (low evidence)	COASY Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neurodegeneration with brain iron accumulation 6, MIM# 615643 Tags
Red List (low evidence)	COG2 Congenital Disorders of Glycosylation v1.58	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)	COL4A1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Phenotypes Recurrent rhabdomyolysis infections hypertrophic cardiomyopathy. Tags
Red List (low evidence)	COL4A2 Cerebral vascular malformations v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Stroke, hemorrhagic MIM#614519 Tags
Red List (low evidence)	COL4A2 Leukodystrophy - adult onset v0.143	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Brain small vessel disease 2, 614483 Tags
Red List (low evidence)	COL4A2 Brain Calcification v1.99	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Brain small vessel disease 2, MIM# 614483 Tags
Red List (low evidence)	COQ5 Mitochondrial disease v0.969	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Phenotypes Coenzyme Q10 deficiency, primary 9, MIM#619028 Cerebellar ataxia encephalopathy generalized tonic-clonic seizures intellectual disability Tags
Red List (low evidence)	COQ5 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list 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)	COQ7 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) Tags
Red List (low evidence)	COQ8A Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 612016 Tags
Red List (low evidence)	COQ9 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Coenzyme Q10 deficiency, primary, 5 614654 Tags
Red List (low evidence)	COX18 Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red List (low evidence)	COX8A Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 Tags
Red List (low evidence)	CPA6 Genetic Epilepsy v1.108	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, familial temporal lobe, 5, MIM#614417 Febrile seizures, familial, 11, MIM#614418 Tags disputed refuted
Red List (low evidence)	CRB1 Cerebral vascular malformations v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Pigmented paravenous chorioretinal atrophy MIM#172870 Tags
Red List (low evidence)	CSNK1E Genetic Epilepsy v1.108	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)	CTSA Cerebral vascular malformations v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes galactosialidosis MONDO:0009737 Tags
Red List (low evidence)	CYBRD1 Metal Metabolism Disorders v0.45	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Phenotypes Iron metabolism disease, MONDO:0002279, CYBRD1-related Tags
Red List (low evidence)	CYP2U1 Ataxia - paediatric v1.30	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Red List (low evidence)	DAB1 Genetic Epilepsy v1.108	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes epilepsy developmental delay cerebellar ataxia structural brain abnormalities oral motor difficulty Tags
Red List (low evidence)	DAB1 Ataxia - paediatric v1.30	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert list Phenotypes epilepsy developmental delay cerebellar ataxia structural brain abnormalities oral motor difficulty Tags
Red List (low evidence)	DAG1 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature 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
Red List (low evidence)	DAO Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Amyotrophic Lateral Sclerosis Tags
Red List (low evidence)	DCAF17 Early-onset Parkinson disease v2.10	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	DCTN1 Dystonia - complex v0.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Perry syndrome MIM#168605 Tags
Red List (low evidence)	DCX Cerebral vascular malformations v1.0	1 review 1 red	Not set	Sources Expert Review Red Genomics England PanelApp Phenotypes lissencephaly spectrum disorders MONDO:0018838 Tags
Red List (low evidence)	DDHD1 Neurodegeneration with brain iron accumulation v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes spastic paraplegia sensory neuropathy Tags
Red List (low evidence)	DENND5A Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Developmental and epileptic encephalopathy 49, MIM# 617281 Tags
Red List (low evidence)	DNAH14 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Tags disputed
Red List (low evidence)	DNAJC13 Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Tags
Red List (low evidence)	DNM2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Complicated hereditary spastic paraplegia Tags
Red List (low evidence)	DRD2 Dystonia - isolated/combined v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Combined dystonia, MONDO:0020065, DRD2-related dystonia chorea anxiety ataxia orofacial dyskinesia tremor memory problems Tags
Red List (low evidence)	DSE Congenital Disorders of Glycosylation v1.58	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) Tags
Red List (low evidence)	DYNC1H1 Motor Neurone Disease v1.27	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 Tags
Red List (low evidence)	EARS2 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate Tags
Red List (low evidence)	EARS2 Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Combined oxidative phosphorylation deficiency 12 MIM#614924 Tags
Red List (low evidence)	EED Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cohen-Gibson syndrome, MIM# 617561 Tags
Red List (low evidence)	EEF2 Ataxia - adult onset v1.18	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia 26 Tags
Red List (low evidence)	EFHC1 Genetic Epilepsy v1.108	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 Tags refuted
Red List (low evidence)	ELOVL1 Ataxia - paediatric v1.30	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Tags
Red List (low evidence)	ELP1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, ELP1-related Tags
Red List (low evidence)	ERCC3 Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Xeroderma pigmentosum, group B, MIM# 610651 Tags
Red List (low evidence)	ERCC3 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 2, photosensitive 616390 Tags
Red List (low evidence)	ERCC5 Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Xeroderma pigmentosum, group G Cockayne syndrome, MIM# 278780 Tags
Red List (low evidence)	ERCC6L2 Mitochondrial disease v0.969	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Bone marrow failure syndrome 2, MIM#615715 Tags
Red List (low evidence)	ERLIN1 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	EWSR1 Motor Neurone Disease v1.27	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	EXOSC3 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, 614678 Tags
Red List (low evidence)	EXOSC8 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags
Red List (low evidence)	EXOSC8 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1C, MIM# 616081 Tags
Red List (low evidence)	FA2H Early-onset Dementia v1.29	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 35, autosomal recessive, MIM# 612319 Tags
Red List (low evidence)	FAAHP1 Pain syndromes v0.34	1 review 1 red	Unknown	Sources Expert Review Red Literature Genomics England PanelApp Phenotypes Pain insensitivity Tags
Red List (low evidence)	FIG4 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	FIG4 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Polymicrogyria, bilateral temporooccipital, MIM#612691 Tags
Red List (low evidence)	FKTN Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Fukuyama congenital muscular dystrophy Tags
Red List (low evidence)	FOLR1 Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Red List (low evidence)	FOXG1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Rett syndrome Tags
Red List (low evidence)	FTH1 Metal Metabolism Disorders v0.45	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Phenotypes Hemochromatosis, type 5, MIM# 615517 Tags 5'UTR
Red List (low evidence)	FUS Early-onset Parkinson disease v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes tremor, hereditary essential, 4 MONDO:0013888 Tags
Red List (low evidence)	GABBR1 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Tags
Red List (low evidence)	GABRA6 Genetic Epilepsy v1.108	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Phenotypes BFIE CAE Tags
Red List (low evidence)	GABRG1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes developmental and epileptic encephalopathy MONDO:0100062 Tags
Red List (low evidence)	GAD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Cerebralpalsy, spasticquadriplegic,1, 603513 Tags
Red List (low evidence)	GAN Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM#256850 Tags
Red List (low evidence)	GATB Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial cardiomyopathy Tags
Red List (low evidence)	GATC Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial cardiomyopathy Tags
Red List (low evidence)	GCH1 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	GCSH Miscellaneous Metabolic Disorders v1.48	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Red List (low evidence)	GDF2 Cerebral vascular malformations v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506 Tags
Red List (low evidence)	GET4 Congenital Disorders of Glycosylation v1.58	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 Early-onset Parkinson disease v2.10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes {Parkinson disease 11} , OMIM # 607688 Tags
Red List (low evidence)	GJB3 Hereditary Neuropathy - complex v1.19	1 review 1 red	Not set	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy Tags
Red List (low evidence)	GMPR Mitochondrial disease v0.969	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes progressive external ophthalmoplegia Tags
Red List (low evidence)	GNA11 Brain Calcification v1.99	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Hypocalcemia, autosomal dominant 2, MIM# 615361 Tags
Red List (low evidence)	GNE Motor Neurone Disease v1.27	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	GPHN Neurotransmitter Defects v1.7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency C, MIM# 615501 Tags
Red List (low evidence)	GRIA1 Genetic Epilepsy v1.108	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Tags
Red List (low evidence)	GRID2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes Complicated spastic paraplegia Tags
Red List (low evidence)	GSN Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Amyloidosis, Finnish type MIM#105120 Tags
Red List (low evidence)	GTF2H5 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 3, photosensitive 616395 Tags
Red List (low evidence)	GUF1 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Epileptic encephalopathy, early infantile, 40, MIM# 617065 Tags
Red List (low evidence)	HARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 2, MIM#614926 Tags
Red List (low evidence)	HARS2 Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Red List (low evidence)	HCN4 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM# 619521 Tags
Red List (low evidence)	HEPH Metal Metabolism Disorders v0.45	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Phenotypes Iron metabolism defect Tags
Red List (low evidence)	HEXA Early-onset Parkinson disease v2.10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes GM2 Gangliosidosis Tay-Sachs disease Parkinsonism OMIM 272800 Tags
Red List (low evidence)	HIBADH Miscellaneous Metabolic Disorders v1.48	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes organic aciduria Tags
Red List (low evidence)	HSPB3 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA ?Neuronopathy, distal hereditary motor, type IIC, 613376 Tags
Red List (low evidence)	HTRA2 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	IARS2 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MIM#616007 Tags
Red List (low evidence)	IBA57 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 3 MIM#615330 Tags
Red List (low evidence)	IDH1 Genetic Epilepsy v1.108	1 review 1 red	Other	Sources Expert Review Red Literature Phenotypes Ollier disease MONDO:0008145 Maffucci syndromeMONDO:0013808 Tags
Red List (low evidence)	IFRD1 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Expert Review Red Literature Phenotypes Spinocerebellar ataxia 18 MIM#607458 Tags
Red List (low evidence)	IFRD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia Tags refuted
Red List (low evidence)	IFRD1 Hereditary Neuropathy - complex v1.19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) HMSN Tags refuted
Red List (low evidence)	IGHMBP2 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VI 604320 Tags
Red List (low evidence)	INTS8 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572 Tags
Red List (low evidence)	IQGAP3 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hereditary neuropathy Tags
Red List (low evidence)	ITGB4 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epidermolysis bullosa, junctional 5A, intermediate MIM#619816 Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730 Tags
Red List (low evidence)	JARID2 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098 Tags
Red List (low evidence)	KCNAB3 Genetic Epilepsy v1.108	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related Tags
Red List (low evidence)	KCNIP4 Genetic Epilepsy v1.108	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes seizures epilepsy Tags
Red List (low evidence)	KCNJ11 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 Tags
Red List (low evidence)	KCNN3 Genetic Epilepsy v1.108	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Green Literature Phenotypes Zimmermann-Laband syndrome 3 MIM#618658 Tags
Red List (low evidence)	KCTD13 Genetic Epilepsy v1.108	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red Expert list Phenotypes Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Tags
Red List (low evidence)	KDM5A Genetic Epilepsy v1.108	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, KDM5A-related Tags
Red List (low evidence)	KDM6A Genetic Epilepsy v1.108	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 Literature Phenotypes Kabuki syndrome 2 MIM#300867 Tags
Red List (low evidence)	KIF1B Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, type 2A1, 118210 HMSN Tags
Red List (low evidence)	KIF1BP Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags
Red List (low evidence)	KIF5A Mitochondrial disease v0.969	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Myoclonus, intractable, neonatal MIM#617235 Tags
Red List (low evidence)	KLC4 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes spastic paraplegia progressive complicated spastic paraplegia Tags
Red List (low evidence)	KLHL13 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Tags
Red List (low evidence)	KMT2B Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Dystonia 28, childhood-onset MIM#617284 Intellectual developmental disorder, autosomal dominant 68 MIM#619934 Tags
Red List (low evidence)	KPNA7 Genetic Epilepsy v1.108	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), KPNA7-related Tags
Red List (low evidence)	LARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 4 MIM#615300 Tags
Red List (low evidence)	LAS1L Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Expert Review Phenotypes congenital lethal motor neuron disease Tags
Red List (low evidence)	LAS1L Motor Neurone Disease v1.27	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes congenital lethal motor neuron disease Tags
Red List (low evidence)	LMX1B Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Focal segmental glomerulosclerosis 10 MIM#256020 Nail-patella syndrome MIM#161200 Tags
Red List (low evidence)	LSM11 Brain Calcification v1.99	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Aicardi-Goutieres syndrome 8, MIM# 619486 Tags
Red List (low evidence)	MAGI2 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Monogenic epilepsy, MONDO:0015653, MAGI2-related Tags
Red List (low evidence)	MAN2A2 Congenital Disorders of Glycosylation v1.58	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)	MARS Leukodystrophy - adult onset v0.143	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Tags
Red List (low evidence)	MARS Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Tags
Red List (low evidence)	MAT1A Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Tags
Red List (low evidence)	MCM3AP Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124) Tags
Red List (low evidence)	ME2 Mitochondrial disease v0.969	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)	MED25 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 2B2 MIM#605589 Tags disputed
Red List (low evidence)	MICU2 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes cognitive impairment spasticity white matter involvement Tags
Red List (low evidence)	MIEF1 Mitochondrial disease v0.969	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 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list 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)	MMADHC Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Tags
Red List (low evidence)	MME Ataxia - adult onset v1.18	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia type 43, 617018 Tags
Red List (low evidence)	MMS19 Genetic Epilepsy v1.108	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)	MOGS Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Red List (low evidence)	MPLKIP Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 4, nonphotosensitive 234050 Tags
Red List (low evidence)	MPV17 Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Tags
Red List (low evidence)	MPV17 Pain syndromes v0.34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Navajo neurohepatopathy Pain insensitivity Tags
Red List (low evidence)	MRPL12 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Growth retardation neurological deterioration mitochondrial translation deficiency Combined oxidative phosphorylation deficiency 45, MIM#618951 Tags
Red List (low evidence)	MRPL42 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Red List (low evidence)	MRPS16 Leukodystrophy - paediatric v0.318	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 2, 610498 Tags
Red List (low evidence)	MRPS25 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list 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 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Intrauterine growth retardation developmental delay dysmorphism Combined oxidative phosphorylation deficiency 47, MIM618958 Tags
Red List (low evidence)	MRVI1 Cerebral vascular malformations v1.0	1 review 1 red	Unknown	Sources Expert Review Red Genomics England PanelApp Tags
Red List (low evidence)	MT-ATP6 Brain Calcification v1.99	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red Expert list Phenotypes Leigh syndrome, MONDO:0009723 Tags
Red List (low evidence)	MT-RNR2 Mitochondrial disease v0.969	1 review 1 red	MITOCHONDRIAL	Sources Expert Review Red Literature Expert Review Tags
Red List (low evidence)	MT-TT Mitochondrial disease v0.969	1 review 1 red	MITOCHONDRIAL	Sources Expert Review Red Expert list Tags mtDNA
Red List (low evidence)	MTPAP Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive Tags
Red List (low evidence)	MYH1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Red List (low evidence)	MYH11 Cerebral vascular malformations v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Aortic aneurysm, familial thoracic 4, 132900 moyamoya-like angiopath Tags
Red List (low evidence)	MYH3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes paresthesia rhabdomyolysis Tags
Red List (low evidence)	NAT8L Genetic Epilepsy v1.108	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red List (low evidence)	NAT8L Miscellaneous Metabolic Disorders v1.48	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red List (low evidence)	NDP Genetic Epilepsy v1.108	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Norrie disease, MIM#310600 Tags
Red List (low evidence)	NDUFA10 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Red List (low evidence)	NDUFA11 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Red List (low evidence)	NDUFA6 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 Tags
Red List (low evidence)	NDUFAF7 Mitochondrial disease v0.969	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Pathologic myopia Tags
Red List (low evidence)	NEFH Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Red List (low evidence)	NME3 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hypotonia Neurodegeneration Abnormal mitochondrial dynamics Tags
Red List (low evidence)	NOL3 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myoclonus, familial cortical Tags
Red List (low evidence)	NR4A2 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	NRG1 Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Expert list Phenotypes Peripheral neuropathy MONDO:0005244 Tags
Red List (low evidence)	OCLN Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Pseudo-TORCH syndrome 1 251290 Tags
Red List (low evidence)	OCRL Leukodystrophy - paediatric v0.318	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Red Phenotypes Lowe syndrome, 309000 Tags
Red List (low evidence)	OCRL Genetic Epilepsy v1.108	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Lowe syndrome MIM#309000 Tags
Red List (low evidence)	ODC1 Genetic Epilepsy v1.108	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Expert Review Green Literature Phenotypes Bachmann-Bupp syndrome 619075 Tags
Red List (low evidence)	OGT Genetic Epilepsy v1.108	3 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 106 MIM#300997 Tags
Red List (low evidence)	OPA3 Early-onset Parkinson disease v2.10	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	OSTC Genetic Epilepsy v1.108	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red List (low evidence)	OSTC Congenital Disorders of Glycosylation v1.58	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)	PANK2 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodegeneration with brain iron accumulation 1 MIM#234200 Tags
Red List (low evidence)	PAPSS2 Congenital Disorders of Glycosylation v1.58	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Tags
Red List (low evidence)	PAX6 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red List (low evidence)	PCDH12 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes cerebellar ataxia, dystonia, retinopathy, and dysmorphism Tags
Red List (low evidence)	PCLO Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Red List (low evidence)	PCYT2 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Red List (low evidence)	PDGFRB Dystonia - complex v0.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 Tags
Red List (low evidence)	PET117 Mitochondrial disease v0.969	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063 Developmental delay Tags
Red List (low evidence)	PEX7 Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Refsum disease Phytanic acid storage disease Tags
Red List (low evidence)	PGAP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Mental retardation, autosomal recessive 42 Tags
Red List (low evidence)	PHGDH Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Red List (low evidence)	PHKB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red List (low evidence)	PIGF Congenital Disorders of Glycosylation v1.58	3 reviews 3 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)	PIGF Genetic Epilepsy v1.108	1 review 1 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 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Ataxia-oculomotor apraxia 3, OMIM #615217 Tags
Red List (low evidence)	PLEKHG5 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Tags
Red List (low evidence)	PLEKHN1 Pain syndromes v0.34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sensory Neuropathy Tags
Red List (low evidence)	PLP1 Dystonia - complex v0.272	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Pelizaeus-Merzbacher disease MIM#312080 Tags
Red List (low evidence)	PLXNA1 Brain Calcification v1.99	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Tags
Red List (low evidence)	PLXNC1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Malformations of cortical development Tags
Red List (low evidence)	PNPLA4 Mitochondrial disease v0.969	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Tags
Red List (low evidence)	PODXL Dystonia - isolated/combined v1.37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes juvenile-onset Parkinson disease Tags
Red List (low evidence)	PODXL Early-onset Parkinson disease v2.10	1 review	Unknown	Sources Literature Phenotypes juvenile-onset Parkinson disease Tags
Red List (low evidence)	POGLUT1 Congenital Disorders of Glycosylation v1.58	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) Tags
Red List (low evidence)	PPA1 Miscellaneous Metabolic Disorders v1.48	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Galactosaemia, MONDO:0018116 Tags
Red List (low evidence)	PPARG Fatty Acid Oxidation Defects v1.14	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	PPIA Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated Tags
Red List (low evidence)	PRDM8 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Epilepsy, progressive myoclonic, 10 MIM#616640 Tags
Red List (low evidence)	PRF1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2 603553 Tags
Red List (low evidence)	PRICKLE1 Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Progressive myoclonic epilepsy 1B, 612437 Progressive Myoclonus Epilepsy with Ataxia Tags
Red List (low evidence)	PRICKLE1 Genetic Epilepsy v1.108	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 1B, MIM# 612437 Tags
Red List (low evidence)	PRIMA1 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Frontal Lobe Epilepsy MONDO:0002612 Tags
Red List (low evidence)	PSAT1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 2 616038 ?Phosphoserine aminotransferase deficiency 610992 Tags
Red List (low evidence)	PSEN1 Neurodegeneration with brain iron accumulation v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodegeneration with brain iron accumulation Frontotemporal dementia, MIM# 600274 Tags
Red List (low evidence)	PSEN2 Early-onset Parkinson disease v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Parkinsonism Alzheimer disease-4 MIM#606889 Tags
Red List (low evidence)	PSMB8 Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040 Tags
Red List (low evidence)	PSMG2 Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 4, MIM# 619183 Tags
Red List (low evidence)	PTBP1 Genetic Epilepsy v1.108	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	PTCD1 Mitochondrial disease v0.969	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red NHS GMS NHS GMS Phenotypes Cardiomyopathy Tags
Red List (low evidence)	PTCH1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Holoprosencephaly 7, MIM# 610828 Tags
Red List (low evidence)	PTH Brain Calcification v1.99	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hypoparathyroidism, familial isolated 1, MIM# 146200 Tags
Red List (low evidence)	PTS Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags
Red List (low evidence)	PYROXD2 Mitochondrial disease v0.969	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags disputed
Red List (low evidence)	QDPR Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676 Tags
Red List (low evidence)	RAB11A Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability seizures Tags
Red List (low evidence)	RAB39B Brain Calcification v1.99	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Intellectual developmental disorder, X-linked 72, MIM# 300271 Tags
Red List (low evidence)	RARS2 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Pontocerebellar hypoplasia, type 6, 611523 early onset cerebellar ataxia Tags
Red List (low evidence)	RELN Dystonia - isolated/combined v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Myoclonus-dystonia syndrome MONDO:0000903 Tags
Red List (low evidence)	REPS1 Neurodegeneration with brain iron accumulation v1.0	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)	RIC3 Early-onset Parkinson disease v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Parkinson disease Tags
Red List (low evidence)	RNASEH2A Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Red List (low evidence)	RPS6KA3 Leukodystrophy - adult onset v0.143	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 Royal Melbourne Hospital Phenotypes Coffin-Lowry syndrome, 303600 Tags
Red List (low evidence)	SAR1B Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Chylomicron retention disease, 246700 Tags
Red List (low evidence)	SARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Progressive spastic paraplegia Tags
Red List (low evidence)	SCN10A Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Episodic pain syndrome, familial, 2 MIM#615551 Neurodevelopmental disorder (MONDO#0700092), SCN10A-related Tags
Red List (low evidence)	SCN9A Genetic Epilepsy v1.108	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes {Dravet syndrome, modifier of} MIM#607208 Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863 Febrile seizures, familial, 3B MIM#613863 Tags
Red List (low evidence)	SCP2 Leukodystrophy - paediatric v0.318	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Leukoencephalopathy with dystonia and motor neuropathy 613724 Tags
Red List (low evidence)	SDHAF2 Mitochondrial disease v0.969	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Paragangliomas 2, MIM# 601650 Tags
Red List (low evidence)	SDHC Mitochondrial disease v0.969	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial disease MONDO:0044970 Tags
Red List (low evidence)	SEC23A Congenital Disorders of Glycosylation v1.58	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Craniolenticulosutural dysplasia (MIM# 607812) Tags
Red List (low evidence)	SEPSECS Ataxia - adult onset v1.18	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D, 613811 cerebellar ataxia and cognitive impairment Tags
Red List (low evidence)	SETX Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	SH3BP4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Tags
Red List (low evidence)	SLC19A3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Biotin-thiamine-responsive basal ganglia disease, MIM#607483 Tags
Red List (low evidence)	SLC22A5 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intractable epilepsy Tags
Red List (low evidence)	SLC25A1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Tags
Red List (low evidence)	SLC25A22 Neurotransmitter Defects v1.7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 3, MIM# 609304 Tags
Red List (low evidence)	SLC27A5 Miscellaneous Metabolic Disorders v1.48	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid-CoA ligase deficiency Disorders of bile acid biosynthesis Tags
Red List (low evidence)	SLC33A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Spastic paraplegia 42, autosomal dominant, MIM# 612539 Tags
Red List (low evidence)	SLC33A1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 42, autosomal dominant Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD Tags
Red List (low evidence)	SLC4A4 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Tags
Red List (low evidence)	SLC52A1 Motor Neurone Disease v1.27	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Riboflavin deficiency, MIM#615026 Tags
Red List (low evidence)	SLC7A6OS Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epilepsy, progressive myoclonic, 12, MIM# 619191 Progressive myoclonus epilepsy Tags
Red List (low evidence)	SLIRP Mitochondrial disease v0.969	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial encephalomyopathy with complex I and IV deficiency Tags
Red List (low evidence)	SMARCA4 Genetic Epilepsy v1.108	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Refractory seizures Tags
Red List (low evidence)	SMARCE1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Coffin-Siris syndrome 5 MIM#616938 Tags
Red List (low evidence)	SMPDL3A Pain syndromes v0.34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sensory Neuropathy Tags
Red List (low evidence)	SNCB Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dementia, Lewy body, MIM#127750 Tags disputed
Red List (low evidence)	SOD1 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	SOX11 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MIM#615866 Tags
Red List (low evidence)	SPART Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	SQSTM1 Neurodegeneration with brain iron accumulation v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ataxia dystonia gaze palsy neuroregression cognitive decline childhood dementia Tags
Red List (low evidence)	STAT3 Genetic Epilepsy v1.108	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	STEAP3 Metal Metabolism Disorders v0.45	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Phenotypes Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 Tags
Red List (low evidence)	STT3B Congenital Disorders of Glycosylation v1.58	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)	STX11 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4 603552 Tags
Red List (low evidence)	STXBP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spasticity Early infantile epileptic encephalopathy 4 Tags
Red List (low evidence)	STXBP2 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 Tags
Red List (low evidence)	SUMF1 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Multiple sulfatase deficiency MIM#272200 Tags
Red List (low evidence)	SV2B Genetic Epilepsy v1.108	2 reviews 2 red	Unknown	Sources Expert Review Red Literature Phenotypes seizures Tags
Red List (low evidence)	SYNE1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags
Red List (low evidence)	SYT14 Ataxia - adult onset v1.18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital GeneReviews Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red List (low evidence)	TACO1 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukoencephalopathy, adult onset Tags
Red List (low evidence)	TAF1C Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Tags
Red List (low evidence)	TAOK1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575 Tags
Red List (low evidence)	TBC1D20 Brain Calcification v1.99	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Warburg micro syndrome 4, MIM# 615663 Tags
Red List (low evidence)	TBC1D7 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000 Tags
Red List (low evidence)	TDO2 Miscellaneous Metabolic Disorders v1.48	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypertryptophanemia MIM#600627 Disorders of histidine, tryptophan or lysine metabolism Tags
Red List (low evidence)	TET2 Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Dementia Tags
Red List (low evidence)	TGIF1 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Holoprosencephaly 4 MIM#142946 Tags
Red List (low evidence)	TGM6 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 35, 613908 Spinocerebellar ataxia 35 Tags refuted
Red List (low evidence)	TH Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	TMEM230 Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Parkinson disease 21, MIM#616361 Tags
Red List (low evidence)	TMEM5 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041 Tags
Red List (low evidence)	TNRC6A Genetic Epilepsy v1.108	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)	TOR1AIP1 Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Dystonia, cerebellar atrophy, and cardiomyopathy Tags
Red List (low evidence)	TPP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis neuronal 2, MIM#204500 Tags
Red List (low evidence)	TPR Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red List (low evidence)	TRAPPC2L Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red List (low evidence)	TRAPPC2L Genetic Epilepsy v1.108	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red List (low evidence)	TRIM32 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 ?Bardet-Biedl syndrome 11, 615988 Tags
Red List (low evidence)	TRIP11 Congenital Disorders of Glycosylation v1.58	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	TRIP4 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Red List (low evidence)	TRPA1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Episodic pain syndrome, familial, 1 HSAN/SFN Tags
Red List (low evidence)	TRPC3 Genetic Epilepsy v1.108	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Expert list Expert Review Amber Expert list Phenotypes ?Spinocerebellar ataxia 41 - 616410 Tags
Red List (low evidence)	TRPM6 Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hypomagnesemia 1, intestinal, MIM# 602014 Tags
Red List (low evidence)	TRPV1 Pain syndromes v0.34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459 Tags
Red List (low evidence)	TRPV4 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Tags
Red List (low evidence)	TSEN2 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B, 612389 Tags
Red List (low evidence)	TSEN34 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 Tags
Red List (low evidence)	TSEN34 Genetic Epilepsy v1.108	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia type 2C, MIM#612390 Tags
Red List (low evidence)	TSEN54 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 5 610204 Pontocerebellar hypoplasia type 4 225753 Pontocerebellar hypoplasia type 2A 277470 Tags
Red List (low evidence)	TSEN54 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Expert list Phenotypes adult-onset cerebellar ataxia Tags
Red List (low evidence)	TSPOAP1 Hereditary Spastic Paraplegia - adult onset v1.11	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 22, MIM# 620453 Tags
Red List (low evidence)	TTC8 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, 615985 Tags
Red List (low evidence)	TTN Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Expert list Phenotypes Congenital titinopathy exercise intolerance Tags
Red List (low evidence)	TTR Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Tags
Red List (low evidence)	TUBA1A Ataxia - paediatric v1.30	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, 611603 Tags
Red List (low evidence)	TUBA8 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 Tags
Red List (low evidence)	TUBB2A Ataxia - paediatric v1.30	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?progressive spastic ataxia syndrome resembling sacsinopathy Complex cortical dysplasia with other brain malformations 5, 615763 Tags
Red List (low evidence)	TUBB4A Early-onset Parkinson disease v2.10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	TYMP Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Red List (low evidence)	U2AF2 Leukodystrophy - paediatric v0.318	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Red List (low evidence)	UBA1 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Green Expert list Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Tags
Red List (low evidence)	UCHL1 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	UGGT1 Genetic Epilepsy v1.108	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	UNC13B Genetic Epilepsy v1.108	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert list Phenotypes Epilepsy Tags
Red List (low evidence)	UNC13D Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 608898 Tags
Red List (low evidence)	UNC80 Dystonia - complex v0.272	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Red List (low evidence)	VAPB Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 8 MIM#608627 Spinal muscular atrophy, late-onset, Finkel type MIM#182980 Tags
Red List (low evidence)	VARS2 Brain Calcification v1.99	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Combined oxidative phosphorylation deficiency 20, MIM# 615917 Tags
Red List (low evidence)	VPS11 Dystonia - isolated/combined v1.37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 32, MIM# 619637 Dystonia, adult-onset Tags
Red List (low evidence)	VPS37A Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Spastic paraplegia 53, autosomal recessive MIM#614898 Tags
Red List (low evidence)	VWA3B Ataxia - adult onset v1.18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital GeneReviews Phenotypes ?Spinocerebellar ataxia, autosomal recessive 22 Tags
Red List (low evidence)	WASHC4 Genetic Epilepsy v1.108	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 43 MIM#615817 Tags
Red List (low evidence)	WASL Early-onset Parkinson disease v2.10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Parkinson's disease, MONDO:0005180, WASL-related Tags
Red List (low evidence)	WDFY3 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Microcephaly 18, primary, autosomal dominant MIM#617520 Tags
Red List (low evidence)	WDPCP Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Red List (low evidence)	WDR48 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia Tags
Red List (low evidence)	XPNPEP3 Mitochondrial disease v0.969	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 MIM#613159 Tags
Red List (low evidence)	YEATS2 Genetic Epilepsy v1.108	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)	ZDHHC15 Genetic Epilepsy v1.108	3 reviews 3 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 Literature Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Intellectual disability, X-linked 91, 300577 Tags
Red List (low evidence)	ZFR Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Complicated hereditary spastic paraplegia Tags
Red List (low evidence)	ZFYVE27 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia 33, autosomal dominant, MIM#610244 Tags
Red List (low evidence)	ZIC2 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Holoprosencephaly 5 MIM#609637 Tags
Red List (low evidence)	ZNF423 Ataxia - paediatric v1.30	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Nephronophthisis 14 Tags
Red List (low evidence)	ZNF592 Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 5 Galloway-Mowat Syndrome 1, 251300 Tags
No list	ATN1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
No list	ATN1 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
No list	ATXN1 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags STR
No list	ATXN10 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags STR
No list	ATXN10 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 10 Parkinsonism OMIM 603516 Tags STR
No list	ATXN2 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 2 Parkinsonism Myoclonus OMIM 183090 Tags STR
No list	ATXN2 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags STR
No list	ATXN3 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Machado-Joseph disease MIM#109150 spindocerebellar ataxia 3 Tags STR
No list	ATXN3 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar 3 Machado Joseph disease Ataxia Parkinsonism OMIM 109150 Tags STR
No list	ATXN7 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags STR
No list	ATXN8 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags STR
No list	ATXN8 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar 8 Parkinsonism OMIM 608768 Tags STR
No list	BEAN1 Ataxia - adult onset v1.18	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 31, 117210 autosomal dominant cerebellar ataxia type III Tags STR
No list	C9orf72 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550 Tags STR
No list	C9orf72 Early-onset Dementia v1.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list	C9orf72 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list	CAPRIN1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
No list	CAPRIN1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
No list	CAPRIN1 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
No list	DAB1 Ataxia - adult onset v1.18	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Removed Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags STR
No list	FAME1 STR Genetic Epilepsy v1.108	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Expert list Phenotypes Epilepsy, familial adult myoclonic, 1 MIM#601068 Tags
No list	FMR1 Ataxia - adult onset v1.18	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 Removed Royal Melbourne Hospital Phenotypes FragileXtremor/ataxiasyndrome,300623 males with a tremor phenotype Fragile X tremor/ataxia syndrome FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI) Tags STR
No list	FMR1 Early-onset Parkinson disease v2.10	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 Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
No list	HTT Early-onset Parkinson disease v2.10	1 review 1 green	Unknown	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags STR
No list	JPH3 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Huntington Disease Like 2 (HDL2) Parkinsonism Severe Dementia OMIM 606438 Tags STR
No list	MT-ND6 Early-onset Parkinson disease v2.10	1 review 1 green	MITOCHONDRIAL	Sources Literature Phenotypes Leber Optic Atrophy Parkinsonism OMIM 516006 Tags mtDNA
No list	NAA15 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes dystonia neurodevelopmental delay Tags
No list	NACC1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes chorea dystonia epilepsy microcephaly cataracts dysautonomia iron deficiency anemia stereotypies Tags
No list	NOP56 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 36, 614153 Tags STR
No list	PAH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Phenylketonuria MIM#261600 Tags
No list	PPP2R2B Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar ataxia 12 Parkinsonism OMIM 604326 Tags STR
No list	PPP2R2B Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags STR
No list	RAPGEF2 Genetic Epilepsy v1.108	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 Tags STR
No list	SAMD12 Genetic Epilepsy v1.108	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Literature Literature Phenotypes Epilepsy, familial adult myoclonic, 1, MIM# 601068 Tags deep intronic STR
No list	STARD7 Genetic Epilepsy v1.108	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes Epilepsy, familial adult myoclonic, 2, 607876 Tags STR
No list	TAF1 Dystonia - isolated/combined v1.37	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes Dystonia-Parkinsonism, X-linked, 314250 (NB complex mutation) Tags deep intronic founder
No list	TAF1 Early-onset Parkinson disease v2.10	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dystonia-Parkinsonism, X-linked, MIM# 314250 Tags deep intronic founder STR
No list	TBP Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags STR
No list	TBP Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 17 Parkinsonism Chorea Seizures Psychosis Dementia OMIM 607136 Tags STR

Progressive Neurological Conditions (Version 19.48)

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