Additional findings_Paediatric (Version 0.278)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1425 Entitiess
Green List (high evidence)	AAAS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome Tags
Green List (high evidence)	AARS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	ABCA12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive Tags
Green List (high evidence)	ABCA3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Surfactant metabolism dysfunction, pulmonary, 3 Tags
Green List (high evidence)	ABCA4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Stargardt disease Tags
Green List (high evidence)	ABCB11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 2 Tags
Green List (high evidence)	ABCB4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 3 Tags
Green List (high evidence)	ABCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Dubin-Johnson syndrome, MIM# 237500 Tags
Green List (high evidence)	ABCC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudoxanthoma elasticum Tags SV/CNV
Green List (high evidence)	ABCC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial Tags
Green List (high evidence)	ABCD1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Adrenoleukodystrophy Tags
Green List (high evidence)	ABCG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sitosterolemia Tags
Green List (high evidence)	ACAD8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Isobutyryl-CoA dehydrogenase deficiency Tags
Green List (high evidence)	ACAD9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes ACAD9 deficiency Tags
Green List (high evidence)	ACADM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Medium chain acyl CoA dehydrogenase deficiency Tags
Green List (high evidence)	ACADVL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes VLCAD deficiency Tags
Green List (high evidence)	ACAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alpha-methylacetoacetic aciduria Tags
Green List (high evidence)	ACE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Renal tubular dysgenesis Tags
Green List (high evidence)	ACOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency Tags
Green List (high evidence)	ACTG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal dominant Baraitser-Winter syndrome Tags
Green List (high evidence)	ACTG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome Tags
Green List (high evidence)	ACTN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Macrothrombocytopenia Tags
Green List (high evidence)	ACTN4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 1 Tags
Green List (high evidence)	ACVR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Fibrodysplasia ossificans progressiva Tags
Green List (high evidence)	ACVRL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 Tags
Green List (high evidence)	ADA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency due to ADA deficiency Tags
Green List (high evidence)	ADAMTS13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thrombotic thrombocytopenic purpura, familial Tags
Green List (high evidence)	ADAMTSL2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Geleophysic dysplasia 1 Tags
Green List (high evidence)	ADAR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Dyschromatosis symmetrica hereditaria Aicardi-Goutieres syndrome Tags
Green List (high evidence)	ADGRG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Polymicrogyria, bilateral frontoparietal Tags
Green List (high evidence)	ADGRV1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Usher syndrome, type 2C Tags
Green List (high evidence)	ADK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypermethioninemia due to adenosine kinase deficiency Tags
Green List (high evidence)	AGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aspartylglucosaminuria Tags
Green List (high evidence)	AGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease IIIa Tags
Green List (high evidence)	AGRN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Myasthenia, limb-girdle, familial Tags
Green List (high evidence)	AGXT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperoxaluria, primary, type 1 Tags
Green List (high evidence)	AHI1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Joubert syndrome-3 Tags
Green List (high evidence)	AIFM1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Cowchock syndrome Tags
Green List (high evidence)	AIRE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia Tags
Green List (high evidence)	AKR1D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 2 Tags
Green List (high evidence)	ALAS2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Anemia, sideroblastic, X-linked Tags
Green List (high evidence)	ALB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Analbuminemia Tags
Green List (high evidence)	ALDH18A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIIA Tags
Green List (high evidence)	ALDH3A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sjogren-Larsson syndrome Tags
Green List (high evidence)	ALDH5A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Succinic semialdehyde dehydrogenase deficiency Tags
Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags
Green List (high evidence)	ALDOB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fructose intolerance Tags
Green List (high evidence)	ALG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ik Tags
Green List (high evidence)	ALG12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ig Tags
Green List (high evidence)	ALG3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Id Tags
Green List (high evidence)	ALG6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ic Tags
Green List (high evidence)	ALG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih Tags
Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Tags
Green List (high evidence)	ALMS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alstrom syndrome Tags
Green List (high evidence)	ALOX12B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive Tags
Green List (high evidence)	ALOXE3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive Tags
Green List (high evidence)	ALPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypophosphatasia Tags
Green List (high evidence)	ALS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Amyotrophic lateral sclerosis Tags
Green List (high evidence)	ALX4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Parietal foramina 2 Tags
Green List (high evidence)	AMELX	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Amelogenesis imperfecta Tags
Green List (high evidence)	AMN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Megaloblastic anemia-1, Norwegian type Tags
Green List (high evidence)	AMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperglycinaemia, non-ketotic Tags
Green List (high evidence)	ANK1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Spherocytosis Tags
Green List (high evidence)	ANK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Green Phenotypes Complex neurodevelopmental disorder, MONDO:0100038 Tags
Green List (high evidence)	ANKH	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Craniometaphyseal dysplasia Tags
Green List (high evidence)	ANKRD26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Thrombocytopenia 2 Tags 5'UTR
Green List (high evidence)	ANO10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10 Tags
Green List (high evidence)	ANTXR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyaline fibromatosis syndrome Tags
Green List (high evidence)	AP3B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2 Tags
Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 Tags
Green List (high evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Green List (high evidence)	APC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Adenomatous polyposis coli Adenomatous polyposis coli, attenuated Tags
Green List (high evidence)	APOB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypercholesterolaemia, familial, 2, MIM# 144010 Hypobetalipoproteinaemia 615558 Tags
Green List (high evidence)	APRT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Adenine phosphoribosyltransferase deficiency, MIM# 614723 Tags
Green List (high evidence)	APTX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Tags
Green List (high evidence)	AR	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Androgen insensitivity, MIM# 300068 Tags
Green List (high evidence)	ARFGEF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Periventricular heterotopia with microcephaly Tags
Green List (high evidence)	ARG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arginase deficiency Tags
Green List (high evidence)	ARID1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Coffin-Siris syndrome Tags
Green List (high evidence)	ARMC4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	ARSA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Metachromatic leukodystrophy Tags
Green List (high evidence)	ARSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) Tags
Green List (high evidence)	ARX	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Lissencephaly, X-linked 2 Tags
Green List (high evidence)	ASL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Argininosuccinic aciduria Tags
Green List (high evidence)	ASPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Canavan disease Tags
Green List (high evidence)	ASS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Citrullinemia Tags
Green List (high evidence)	ATM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ataxia-telangiectasia Tags
Green List (high evidence)	ATP1A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemiplegic migraine Tags
Green List (high evidence)	ATP2A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Brody myopathy Tags
Green List (high evidence)	ATP2B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, childhood onset Tags
Green List (high evidence)	ATP6V0A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIA Tags
Green List (high evidence)	ATP6V1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Renal tubular acidosis & hearing loss Tags
Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Menkes disease, MIM# 309400 Tags
Green List (high evidence)	ATP7B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wilson disease Tags
Green List (high evidence)	ATP8B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1 Tags
Green List (high evidence)	ATRX	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green List (high evidence)	AUH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes 3-methylglutaconic aciduria, type I Tags
Green List (high evidence)	AVPR2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Diabetes insipidus, nephrogenic Tags
Green List (high evidence)	B3GLCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Peters-Plus syndrome Tags
Green List (high evidence)	BAAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bile acid amidation defect Tags
Green List (high evidence)	BBS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BBS10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BBS12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BBS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BBS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BBS5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BBS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BBS9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	BCHE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Butyrylcholinesterase deficiency, MIM# 617936 Tags
Green List (high evidence)	BCKDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Maple syrup urine disease Tags
Green List (high evidence)	BCKDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Maple syrup urine disease Tags
Green List (high evidence)	BCS1L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Complex 3 deficiency Tags
Green List (high evidence)	BICD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital spinal muscular atrophy Tags
Green List (high evidence)	BIN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Myopathy, centronuclear, autosomal recessive Tags
Green List (high evidence)	BLM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bloom syndrome Tags
Green List (high evidence)	BMPR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Polyposis, juvenile intestinal, MIM# 174900 Tags
Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Noonan syndrome 7, MIM# 613706 Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green List (high evidence)	BSCL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Berardinelli-Seip lipodystrophy Lipodystrophy, congenital generalized, type 2, MIM# 269700 Tags
Green List (high evidence)	BSND	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bartter syndrome with sensorineural deafness Tags
Green List (high evidence)	BTD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Biotinidase deficiency Tags
Green List (high evidence)	BTK	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Agammaglobulinemia, X-linked 1 Tags
Green List (high evidence)	CA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Tags
Green List (high evidence)	CABP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 93, MIM# 614899 Tags
Green List (high evidence)	CACNA1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Episodic ataxia, type 2 Tags
Green List (high evidence)	CACNA1F	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked Tags
Green List (high evidence)	CAPN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2A Tags
Green List (high evidence)	CARD11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 11A, MIM# 615206 Tags
Green List (high evidence)	CASK	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia Tags
Green List (high evidence)	CASQ2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ventricular tachycardia, catecholaminergic polymorphic Tags
Green List (high evidence)	CAV3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type IC Caveolinopathy Tags
Green List (high evidence)	CAVIN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 4 Tags
Green List (high evidence)	CBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia Tags
Green List (high evidence)	CBS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types Tags
Green List (high evidence)	CC2D2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Joubert syndrome Tags
Green List (high evidence)	CCDC39	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	CCDC40	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	CD3D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 19, MIM# 615617 Tags
Green List (high evidence)	CD40LG	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Immunodeficiency, X-linked, with hyper-IgM Tags
Green List (high evidence)	CDAN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Anemia, congenital dyserythropoietic, type I Tags
Green List (high evidence)	CDC14A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 Tags
Green List (high evidence)	CDH23	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome, type 1D Deafness, autosomal recessive Tags
Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488 Tags
Green List (high evidence)	CDKL5	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 2 Tags
Green List (high evidence)	CDKN1C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Beckwith-Wiedemann syndrome Tags
Green List (high evidence)	CDSN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypotrichosis Tags
Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Meier-Gorlin syndrome 4, MIM# 613804 MONDO:0013431 Tags
Green List (high evidence)	CEP152	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Seckel syndrome Tags
Green List (high evidence)	CEP290	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Joubert syndrome Tags
Green List (high evidence)	CEP78	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cone-rod dystrophy and hearing loss Tags
Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green List (high evidence)	CFC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital heart defects Tags
Green List (high evidence)	CFL2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Tags
Green List (high evidence)	CFP	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Properdin deficiency, X-linked Tags
Green List (high evidence)	CFTR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cystic fibrosis Tags
Green List (high evidence)	CHAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	CHD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Developmental delay, intellectual disability, epilepsy Tags
Green List (high evidence)	CHD7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes CHARGE syndrome Tags
Green List (high evidence)	CHKB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, congenital, megaconial type Tags
Green List (high evidence)	CHM	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Choroideremia Tags
Green List (high evidence)	CHRNA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	CHRND	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	CHRNE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	CHRNG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pterygium syndrome Tags
Green List (high evidence)	CIB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 48, MIM# 609439 Tags
Green List (high evidence)	CLCN5	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Dent disease Tags
Green List (high evidence)	CLCN7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 4, MIM# 611490 Tags
Green List (high evidence)	CLDN14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hearing loss, non-syndromic, autosomal recessive Tags
Green List (high evidence)	CLDN19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypomagnesemia 5, renal, with ocular involvement Tags
Green List (high evidence)	CLN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 3 Tags
Green List (high evidence)	CLN5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5 Tags
Green List (high evidence)	CLN6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6 Tags
Green List (high evidence)	CLN8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8 Tags
Green List (high evidence)	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Green List (high evidence)	CLRN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome, type 3A Tags
Green List (high evidence)	CNGB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Achromatopsia-3 Tags
Green List (high evidence)	COCH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal dominant 9, MIM# 601369 Deafness, autosomal recessive 110, MIM# 618094 Tags
Green List (high evidence)	COG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIi Tags
Green List (high evidence)	COL11A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Stickler syndrome Tags
Green List (high evidence)	COL11A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Otospondylomegaepiphyseal dysplasia Tags
Green List (high evidence)	COL17A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional, non-Herlitz type Tags
Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Osteogenesis imperfecta, type I Tags
Green List (high evidence)	COL1A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteogenesis imperfecta, type II Tags
Green List (high evidence)	COL2A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Stickler syndrome Tags
Green List (high evidence)	COL3A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Ehlers-Danlos syndrome, type IV Tags
Green List (high evidence)	COL4A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome Tags
Green List (high evidence)	COL4A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome Tags
Green List (high evidence)	COL4A5	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome Tags
Green List (high evidence)	COL5A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Ehlers-Danlos syndrome, type I Tags
Green List (high evidence)	COL5A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Ehlers-Danlos syndrome Tags
Green List (high evidence)	COL6A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ullrich congenital muscular dystrophy Tags
Green List (high evidence)	COL6A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ullrich congenital muscular dystrophy Tags
Green List (high evidence)	COL6A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ullrich congenital muscular dystrophy Tags
Green List (high evidence)	COL7A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa dystrophica Tags
Green List (high evidence)	COL9A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Stickler syndrome, type IV, MIM#614134 Tags
Green List (high evidence)	COL9A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Stickler syndrome, type V, MIM# 614284 Tags
Green List (high evidence)	COL9A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Stickler syndrome Tags
Green List (high evidence)	COLQ	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	CPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carbamoylphosphate synthetase I deficiency Tags
Green List (high evidence)	CPT1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carnitine palmitoyltransferase I deficiency Tags
Green List (high evidence)	CPT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carnitine palmitoyltransferase 2 deficiency Tags
Green List (high evidence)	CREBBP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Rubinstein-Taybi syndrome Tags
Green List (high evidence)	CRLF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Crisponi syndrome Tags
Green List (high evidence)	CRTAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteogenesis imperfecta, type VII Tags
Green List (high evidence)	CSF2RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 Tags
Green List (high evidence)	CSTB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A Tags
Green List (high evidence)	CTC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Coats plus syndrome Tags
Green List (high evidence)	CTNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cystinosis Tags
Green List (high evidence)	CTSD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10 Tags
Green List (high evidence)	CTSK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pycnodysostosis Tags
Green List (high evidence)	CUBN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Megaloblastic anemia-1, Finnish type Tags
Green List (high evidence)	CUL7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes 3-M syndrome Tags
Green List (high evidence)	CYBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Chronic granulomatous disease Tags
Green List (high evidence)	CYBB	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Chronic granulomatous disease Tags
Green List (high evidence)	CYP11A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete Tags
Green List (high evidence)	CYP11B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Tags
Green List (high evidence)	CYP21A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Tags
Green List (high evidence)	CYP27A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cerebrotendinous xanthomatosis Tags
Green List (high evidence)	CYP27B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Vitamin D-dependent rickets, type I Tags
Green List (high evidence)	CYP4F22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive Tags
Green List (high evidence)	D2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria Tags
Green List (high evidence)	DBT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Maple syrup urine disease Tags
Green List (high evidence)	DCLRE1C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency, Athabascan type Tags
Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Lissencephaly, X-linked, MIM# 300067 Tags
Green List (high evidence)	DDB2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum Tags
Green List (high evidence)	DDC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency Tags
Green List (high evidence)	DFNA5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hearing loss Tags
Green List (high evidence)	DFNB59	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hearing loss Tags
Green List (high evidence)	DGUOK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome Tags
Green List (high evidence)	DHCR7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome Tags
Green List (high evidence)	DIAPH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 Tags
Green List (high evidence)	DLD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Maple syrup urine disease, type III Tags
Green List (high evidence)	DLL3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Spondylocostal dysostosis, autosomal recessive, 1 Tags
Green List (high evidence)	DMP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypophosphatemic rickets, AR Tags
Green List (high evidence)	DMPK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Myotonic dystrophy 1 Tags
Green List (high evidence)	DMXL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 81, MIM#618663 Tags
Green List (high evidence)	DNAAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	DNAH11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	DNAH5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	DNAI1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	DNAJB6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, limb girdle Tags
Green List (high evidence)	DNM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Myopathy, centronuclear Charcot-Marie-Tooth disease, axonal, type 2M Tags
Green List (high evidence)	DNMT3B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Tags
Green List (high evidence)	DOCK8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyper-IgE syndrome Tags
Green List (high evidence)	DOK7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green List (high evidence)	DPAGT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ij Tags
Green List (high evidence)	DUOX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis Tags
Green List (high evidence)	DUOXA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 5, MIM# 274900 Tags
Green List (high evidence)	DYSF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Miyoshi muscular dystrophy 1 Muscular dystrophy, limb-girdle, type 2B Tags
Green List (high evidence)	EDA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Ectodermal dysplasia, hypohidrotic Tags
Green List (high evidence)	EDAR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ectodermal dysplasia, hypohidrotic Tags
Green List (high evidence)	EDARADD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Ectodermal dysplasia, hypohidrotic Tags
Green List (high evidence)	EDN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Waardenburg syndrome Tags
Green List (high evidence)	EDNRB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Waardenburg syndrome, type 4A, MIM# 277580 Tags
Green List (high evidence)	EFTUD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Mandibulofacial dysostosis with microcephaly Tags
Green List (high evidence)	EGR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	EIF2AK3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wolcott-Rallison syndrome Tags
Green List (high evidence)	ELANE	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neutropenia, congenital Tags
Green List (high evidence)	ELN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Supravalvar aortic stenosis Tags
Green List (high evidence)	ELP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Dysautonomia, familial Tags
Green List (high evidence)	EMD	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, Emery-Dreifuss Tags
Green List (high evidence)	ENG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 Tags
Green List (high evidence)	ENPP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arterial calcification, generalized, of infancy, 1 Tags
Green List (high evidence)	EPM2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) Tags
Green List (high evidence)	EPS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes deafness MIM#600205 Tags
Green List (high evidence)	EPS8L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, MIM#617637 Tags
Green List (high evidence)	ERCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum Tags
Green List (high evidence)	ERCC5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum Tags
Green List (high evidence)	ERCC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cockayne syndrome Tags
Green List (high evidence)	ERCC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cockayne syndrome Tags
Green List (high evidence)	ESCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Roberts syndrome Tags
Green List (high evidence)	ESPN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Tags
Green List (high evidence)	ESRRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hearing loss Tags
Green List (high evidence)	ETFA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutaric acidemia IIA Tags
Green List (high evidence)	ETFB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutaric acidemia IIB Tags
Green List (high evidence)	ETFDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutaric acidemia IIC Tags
Green List (high evidence)	ETHE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ethylmalonic encephalopathy Tags
Green List (high evidence)	EVC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ellis-van Creveld syndrome Tags
Green List (high evidence)	EVC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ellis-van Creveld syndrome Tags
Green List (high evidence)	EXT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Exostoses, multiple, type 1 Tags
Green List (high evidence)	EXT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Exostoses, multiple, type 2 Tags
Green List (high evidence)	EYA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Branchiootorenal syndrome Tags
Green List (high evidence)	EYA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal dominant Tags
Green List (high evidence)	EZH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Weaver syndrome 2 Tags
Green List (high evidence)	F10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Factor X deficiency, MIM# 227600 Tags
Green List (high evidence)	F11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Factor XI deficiency Tags
Green List (high evidence)	F13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Factor XIIIA deficiency, MIM# 613225 Tags
Green List (high evidence)	F2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Prothrombin deficiency Tags
Green List (high evidence)	F5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Factor V deficiency MIM# 227400 Thrombophilia due to activated protein C resistance MIM# 188055 Tags
Green List (high evidence)	F7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Factor VII deficiency MIM# 227500 Tags
Green List (high evidence)	F8	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophilia A Tags
Green List (high evidence)	F9	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophilia B Tags
Green List (high evidence)	FAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Tyrosinemia, type I Tags
Green List (high evidence)	FAM126A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypomyelination and congenital cataract Tags
Green List (high evidence)	FAM161A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Retinal dystrophy Tags
Green List (high evidence)	FAM20C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteosclerotic bone dysplasia Tags
Green List (high evidence)	FAM58A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Syndactyly - telecanthus - anogenital and renal malformations Tags
Green List (high evidence)	FANCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia Tags
Green List (high evidence)	FANCB	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia Tags
Green List (high evidence)	FANCC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia Tags
Green List (high evidence)	FANCD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia Tags
Green List (high evidence)	FANCG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia Tags
Green List (high evidence)	FANCI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia Tags
Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Marfan's syndrome Weill-Marchesani syndrome 2, dominant Shprintzen-Goldberg syndrome Tags
Green List (high evidence)	FBN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Contractural arachnodactyly, congenital MIM#121050 Tags
Green List (high evidence)	FBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fructose-1,6-bisphosphatase deficiency MIM# 229700 Tags
Green List (high evidence)	FGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Afibrinogenaemia Tags
Green List (high evidence)	FGB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Afibrinogenaemia Tags
Green List (high evidence)	FGD1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Aarskog-Scott syndrome Tags
Green List (high evidence)	FGD4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	FGF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia Tags
Green List (high evidence)	FGFR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Kallmann syndrome Tags
Green List (high evidence)	FGFR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Beare-Stevenson cutis gyrata syndrome Crouzon syndrome Apert syndrome Pfeiffer syndrome Jackson-Weiss syndrome Tags
Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Crouzon syndrome with acanthosis nigricans Achondroplasia Muenke syndrome CATSHL syndrome Thanatophoric dysplasia type 1 LADD syndrome Hypochondroplasia Tags
Green List (high evidence)	FGG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Afibrinogenaemia Tags
Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Fumurase deficiency MIM# 606812 Tags
Green List (high evidence)	FKRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscle-eye-brain disease Muscular dystrophy, limb girdle 2I Tags
Green List (high evidence)	FKTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Muscular dystrophy, Fukuyama Tags
Green List (high evidence)	FLCN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Birt-Hogg-Dube syndrome Tags
Green List (high evidence)	FLNA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Otopalatodigital spectrum disorder Tags
Green List (high evidence)	FOXC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Axenfeld-Rieger syndrome Tags
Green List (high evidence)	FOXC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Lymphoedema, primary Tags
Green List (high evidence)	FOXF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins Tags
Green List (high evidence)	FOXI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes sensorineural deafness and distal renal tubular acidosis Tags
Green List (high evidence)	FOXP3	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes IPEX syndrome Tags
Green List (high evidence)	FRAS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fraser syndrome Tags
Green List (high evidence)	FTL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neuroferritinopathy Tags
Green List (high evidence)	FUCA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fucosidosis Tags
Green List (high evidence)	FXN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Friedreich ataxia Tags
Green List (high evidence)	G6PC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease Ia Tags
Green List (high evidence)	G6PC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neutropaenia, congenital Tags
Green List (high evidence)	G6PD	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Glucose-6-phosphate dehydrogenase deficiency Tags
Green List (high evidence)	GAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease II Tags
Green List (high evidence)	GALC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Krabbe disease Tags
Green List (high evidence)	GALK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Galactokinase deficiency with cataracts Tags
Green List (high evidence)	GALNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis IVA Tags
Green List (high evidence)	GALT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Galactosaemia Tags
Green List (high evidence)	GAN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Giant axonal neuropathy Tags
Green List (high evidence)	GATA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 21 MIM# 614172 Emberger syndrome MIM# 614038 Tags
Green List (high evidence)	GATA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags
Green List (high evidence)	GATA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital heart defects Tags
Green List (high evidence)	GBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Gaucher disease 1 Tags
Green List (high evidence)	GCDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutaricaciduria, type I Tags
Green List (high evidence)	GCK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial Tags
Green List (high evidence)	GDAP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	GFAP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Alexander disease Tags
Green List (high evidence)	GFM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1 Tags
Green List (high evidence)	GFPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome, limb-girdle Tags
Green List (high evidence)	GGCX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 Tags
Green List (high evidence)	GIF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intrinsic factor deficiency # 261000 Tags
Green List (high evidence)	GIPC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hearing loss Tags
Green List (high evidence)	GJA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Oculodentodigital dysplasia Tags
Green List (high evidence)	GJB1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth neuropathy Tags
Green List (high evidence)	GJB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness Deafness and palmoplantar keratoderma Tags
Green List (high evidence)	GJC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pelizaeus-Merzbacher-like disease Tags
Green List (high evidence)	GLA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Fabry disease Tags
Green List (high evidence)	GLB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Gangliosidosis GM1 Tags
Green List (high evidence)	GLDC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycine encephalopathy Tags
Green List (high evidence)	GLI3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Greig cephalopolysyndactyly syndrome Tags
Green List (high evidence)	GLRA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperekplexia, hereditary 1, autosomal dominant or recessive Tags
Green List (high evidence)	GLUD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperinsulinism Tags
Green List (high evidence)	GNAS	0 reviews	Unknown	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudopseudohypoparathyroidism Pseudohypoparathyroidism Tags
Green List (high evidence)	GNE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Inclusion body myopathy Tags
Green List (high evidence)	GNPTAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucolipidosis II Tags
Green List (high evidence)	GNPTG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucolipidosis III gamma Tags
Green List (high evidence)	GNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis IIId Tags
Green List (high evidence)	GPC3	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Simpson-Golabi-Behmel syndrome Tags
Green List (high evidence)	GPR143	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Ocular albinism, type I Tags
Green List (high evidence)	GPSM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Chudley-McCullough syndrome Tags
Green List (high evidence)	GRHL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Autosomal dominant hearing loss, MIM# 608641 Tags
Green List (high evidence)	GRHPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperoxaluria, primary, type II Tags
Green List (high evidence)	GRXCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 25, MIM# 613285 Tags
Green List (high evidence)	GSS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutathione synthetase deficiency Tags
Green List (high evidence)	GUSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis VII Tags
Green List (high evidence)	GYS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease 0 Tags
Green List (high evidence)	HADH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, 4 Tags
Green List (high evidence)	HADHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency Tags
Green List (high evidence)	HADHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency Tags
Green List (high evidence)	HARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Perrault syndrome autosomal recessive sensorineural hearing loss Tags
Green List (high evidence)	HBA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thalassaemia alpha Tags
Green List (high evidence)	HBA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thalassemia, alpha Tags
Green List (high evidence)	HBB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Beta-thalassemia Tags
Green List (high evidence)	HDAC8	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle Tags
Green List (high evidence)	HEXA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Tay-Sachs disease Tags
Green List (high evidence)	HEXB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms Tags
Green List (high evidence)	HGD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alkaptonuria Tags
Green List (high evidence)	HGF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	HGSNAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis IIIC Tags
Green List (high evidence)	HINT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Axonal neuropathy with neuromyotonia Tags
Green List (high evidence)	HLCS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Holocarboxylase synthetase deficiency Tags
Green List (high evidence)	HMGCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes 3-hydroxy-3-methylglutaric aciduria Tags
Green List (high evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Hypoglycaemia, hyperinsulinaemic Tags
Green List (high evidence)	HOMER2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Autosomal dominant non syndromic deafness Tags
Green List (high evidence)	HPRT1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Lesch-Nyhan syndrome 1 Tags
Green List (high evidence)	HPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 1 Tags
Green List (high evidence)	HPS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 3 Tags
Green List (high evidence)	HPS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 4 Tags
Green List (high evidence)	HPS5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 5 Tags
Green List (high evidence)	HRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Costello syndrome Tags
Green List (high evidence)	HSD17B10	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes 17-beta-hydroxysteroid dehydrogenase X deficiency Tags
Green List (high evidence)	HSD17B3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudohermaphroditism, male, with gynecomastia Tags
Green List (high evidence)	HSD17B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes D-bifunctional protein deficiency Tags
Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 Tags
Green List (high evidence)	HSD3B7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes 3 beta-hydroxysteroid dehydrogenase deficiency Tags
Green List (high evidence)	HSPB8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2L Tags
Green List (high evidence)	HSPG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Schwartz-Jampel syndrome Tags
Green List (high evidence)	HTRA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes CARASIL syndrome Tags
Green List (high evidence)	IDS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis II Tags
Green List (high evidence)	IDUA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis Ih Tags
Green List (high evidence)	IGHMBP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Spinal muscular atrophy with respiratory distress Tags
Green List (high evidence)	IGSF1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Central hypothyroidism and testicular enlargement Tags
Green List (high evidence)	IKBKG	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Incontinentia pigmenti 1 Tags
Green List (high evidence)	IL10RA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Inflammatory bowel disease Tags
Green List (high evidence)	IL2RG	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency, X-linked Tags
Green List (high evidence)	IL7R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 Tags
Green List (high evidence)	ILDR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	INS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life Tags
Green List (high evidence)	INSR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Leprechaunism Tags
Green List (high evidence)	INVS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nephronophthisis 2 Tags
Green List (high evidence)	IQCB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Senior-Loken syndrome 5 Tags
Green List (high evidence)	IRF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes van der Woude syndrome MIM# 119300 Tags
Green List (high evidence)	ISPD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Tags
Green List (high evidence)	ITGA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Tags
Green List (high evidence)	ITGB4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia Tags
Green List (high evidence)	IVD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Isovaleric acidemia Tags
Green List (high evidence)	IYD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 4, MIM# 274800 Tags
Green List (high evidence)	JAG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Alagille syndrome Tags
Green List (high evidence)	JAK3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes SCID, autosomal recessive, T-negative/B-positive type Tags
Green List (high evidence)	KANSL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Koolen-De Vries syndrome Tags
Green List (high evidence)	KARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes deafness with progressive leukodystrophy Tags
Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes SBBYSS syndrome MIM #603736 Genitopatellar syndrome MIM #606170 Tags
Green List (high evidence)	KBTBD13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Tags
Green List (high evidence)	KCNA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Episodic ataxia type 1 Tags
Green List (high evidence)	KCNJ1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bartter syndrome Tags
Green List (high evidence)	KCNJ11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial Tags
Green List (high evidence)	KCNJ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Andersen cardiodysrhythmic periodic paralysis Tags
Green List (high evidence)	KCNQ4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal dominant Tags
Green List (high evidence)	KCTD7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic Tags
Green List (high evidence)	KDM6A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Kabuki syndrome 2 Tags
Green List (high evidence)	KIF21A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Fibrosis of extraocular muscles, congenital Tags
Green List (high evidence)	KIT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Piebaldism Tags
Green List (high evidence)	KLF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 MONDO:0013355 Tags
Green List (high evidence)	KLHL40	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Tags
Green List (high evidence)	KLHL41	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Tags
Green List (high evidence)	KMT2D	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Kabuki syndrome 1 Tags
Green List (high evidence)	KRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Noonan syndrome Tags
Green List (high evidence)	KRT14	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa simplex Tags
Green List (high evidence)	KRT16	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Pachyonychia congenita Tags
Green List (high evidence)	KRT17	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Pachyonychia congenita Tags
Green List (high evidence)	KRT5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa simplex Tags
Green List (high evidence)	KRT6A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Pachyonychia congenita Tags
Green List (high evidence)	L1CAM	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes X-linked hydrocephalus syndrome Tags
Green List (high evidence)	LAMA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, congenital merosin-deficient Tags
Green List (high evidence)	LAMA3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional Tags
Green List (high evidence)	LAMB2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pierson syndrome Tags
Green List (high evidence)	LAMB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional Tags
Green List (high evidence)	LAMC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional Tags
Green List (high evidence)	LAMP2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Danon disease Tags
Green List (high evidence)	LARGE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Walker-Warburg syndrome Tags
Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Perrault syndrome Tags
Green List (high evidence)	LDLR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypercholesterolemia Tags
Green List (high evidence)	LEPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Obesity, morbid, due to leptin receptor deficiency Tags
Green List (high evidence)	LHFPL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	LHX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pituitary hormone deficiency, combined Tags
Green List (high evidence)	LIFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Stuve-Wiedemann syndrome Tags
Green List (high evidence)	LIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency with sensitivity to ionizing radiation Tags
Green List (high evidence)	LIPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wolman syndrome Tags
Green List (high evidence)	LITAF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	LMBRD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria Tags
Green List (high evidence)	LMOD3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Tags
Green List (high evidence)	LMX1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nail patella syndrome Tags
Green List (high evidence)	LOXHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	LRP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Donnai-Barrow syndrome Tags
Green List (high evidence)	LRP4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cenani-Lenz syndactyly syndrome Tags
Green List (high evidence)	LRP5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, autosomal dominant Osteoporosis-pseudoglioma syndrome Tags
Green List (high evidence)	LRPPRC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Leigh syndrome Tags
Green List (high evidence)	LRRC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia Tags
Green List (high evidence)	LRSAM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	LRTOMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	LTBP4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IC Tags
Green List (high evidence)	LYST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Chediak-Higashi syndrome Tags
Green List (high evidence)	MAFB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Multicentric carpotarsal osteolysis syndrome Tags
Green List (high evidence)	MAGI2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Infantile spasms Tags
Green List (high evidence)	MAN2B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mannosidosis, alpha Tags
Green List (high evidence)	MAP2K1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cardiofaciocutaneous syndrome Tags
Green List (high evidence)	MAP2K2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cardiofaciocutaneous syndrome Tags
Green List (high evidence)	MARVELD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	MBTPS2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis follicularis, alopecia & photophobia Tags
Green List (high evidence)	MCFD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Factor V and Factor VIII deficiency, combined Tags
Green List (high evidence)	MCOLN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucolipidosis IV Tags
Green List (high evidence)	MCPH1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Microcephaly 1, primary, autosomal recessive Tags
Green List (high evidence)	MECP2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Rett syndrome Tags
Green List (high evidence)	MED12	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Intellectual disability Tags
Green List (high evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Tags
Green List (high evidence)	MEFV	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mediterranean fever, familial Tags
Green List (high evidence)	MEGF10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Tags
Green List (high evidence)	MEN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Multiple endocrine neoplasia I Tags
Green List (high evidence)	MFN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	MFSD8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal Tags
Green List (high evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Green List (high evidence)	MGP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Keutel syndrome Tags
Green List (high evidence)	MITF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Waardenburg syndrome Tags
Green List (high evidence)	MKKS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome Tags
Green List (high evidence)	MKS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Meckel syndrome Tags
Green List (high evidence)	MLC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Megalencephalic leukoencephalopathy Tags
Green List (high evidence)	MLYCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Malonyl-CoA decarboxylase deficiency Tags
Green List (high evidence)	MMAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive Tags
Green List (high evidence)	MMAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type Tags
Green List (high evidence)	MMACHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type Tags
Green List (high evidence)	MMADHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblD type Tags
Green List (high evidence)	MOCS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Molybdenum cofactor deficiency Tags
Green List (high evidence)	MOCS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Molybdenum cofactor deficiency Tags
Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green List (high evidence)	MPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation 1b Tags
Green List (high evidence)	MPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Amegakaryocytic thrombocytopaenia, congenital Tags
Green List (high evidence)	MPV17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome, hepatic Tags
Green List (high evidence)	MPZ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	MSX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Parietal foramina 1 Tags
Green List (high evidence)	MTM1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Myotubular myopathy, X-linked Tags
Green List (high evidence)	MTR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria Tags
Green List (high evidence)	MTRR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria Tags
Green List (high evidence)	MTTP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Abetalipoproteinaemia Tags
Green List (high evidence)	MUSK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	MUT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria, mut(0) type Tags
Green List (high evidence)	MUTYH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes MUTYH-associated polyposis Tags
Green List (high evidence)	MVK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperimmunoglobulin D and periodic fever syndrome Tags
Green List (high evidence)	MYBPC1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Arthrogryposis, distal, type 1B 614335 Lethal congenital contracture syndrome 4, MIM# 614915 Myopathy, congenital, with tremor MIM#618524 Tags
Green List (high evidence)	MYCN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Feingold syndrome Tags
Green List (high evidence)	MYH14	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal dominant Tags
Green List (high evidence)	MYH2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Proximal myopathy and ophthalmoplegia Tags
Green List (high evidence)	MYH3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis, distal Tags
Green List (high evidence)	MYH7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene Expert Review Green Phenotypes Cardiomyopathy, hypertrophic, 1, OMIM:192600 Laing early-onset distal myopathy, MONDO:0008050 Left ventricular noncompaction 5, OMIM:613426 Cardiomyopathy, dilated, 1S, OMIM:613426 Hypertrophic cardiomyopathy 1, MONDO:0008647 Laing distal myopathy, OMIM:160500 Dilated cardiomyopathy 1S, MONDO:0013262 Tags
Green List (high evidence)	MYH9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Macrothrombocytopenia and progressive sensorineural deafness Tags
Green List (high evidence)	MYO15A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sensorineural hearing loss Tags
Green List (high evidence)	MYO3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sensorineural hearing loss Tags
Green List (high evidence)	MYO6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness Tags
Green List (high evidence)	MYO7A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome Tags
Green List (high evidence)	NAGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes N-acetylgalactosaminidase alpha deficiency Tags
Green List (high evidence)	NAGLU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sanfilippo syndrome type B Tags
Green List (high evidence)	NAGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes N-acetylglutamate synthetase deficiency Tags
Green List (high evidence)	NBN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nijmegen breakage syndrome Tags
Green List (high evidence)	NCF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Chronic granulomatous disease Tags
Green List (high evidence)	NCF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Chronic granulomatous disease Tags
Green List (high evidence)	NDP	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Norrie disease Tags
Green List (high evidence)	NEB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Tags
Green List (high evidence)	NEFL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags
Green List (high evidence)	NEK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 MONDO:0014174 Tags
Green List (high evidence)	NEU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sialidosis Tags
Green List (high evidence)	NEUROG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Diarrhoea 4, malabsorptive, congenital, MIM# 610370 Tags
Green List (high evidence)	NF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neurofibromatosis, type 1 Tags
Green List (high evidence)	NF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neurofibromatosis 2 Tags
Green List (high evidence)	NGLY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Developmental delay, multifocal epilepsy & abnormal liver function Tags
Green List (high evidence)	NHEJ1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Tags
Green List (high evidence)	NHLRC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Myoclonic epilepsy of Lafora Tags
Green List (high evidence)	NIPAL4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, autosomal recessive Tags
Green List (high evidence)	NIPBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cornelia de Lange syndrome Tags
Green List (high evidence)	NKX2-1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress Tags
Green List (high evidence)	NOG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Symphalangism, proximal, 1A Tags
Green List (high evidence)	NOTCH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hajdu-Cheney syndrome Tags
Green List (high evidence)	NOTCH3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Tags
Green List (high evidence)	NPC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Niemann-Pick disease type C1 Tags
Green List (high evidence)	NPC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Niemann-Pick disease type C2 Tags
Green List (high evidence)	NPHP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nephronophthisis Tags
Green List (high evidence)	NPHP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nephronophthisis Tags
Green List (high evidence)	NPHP4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nephronophthisis Tags
Green List (high evidence)	NPHS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital nephrotic syndrome, Finnish type Tags
Green List (high evidence)	NR0B1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital adrenal hypoplasia Tags
Green List (high evidence)	NSD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Sotos syndrome Tags
Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Congenital insensitivity to pain with anhidrosis MIM#256800 Tags
Green List (high evidence)	OBSL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes 3-M syndrome Tags
Green List (high evidence)	OCA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Albinism, oculocutaneous Tags
Green List (high evidence)	OCRL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Lowe oculocerebrorenal syndrome Tags
Green List (high evidence)	OFD1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Oral-facial-digital syndrome Tags
Green List (high evidence)	OPA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Optic atrophy 1 Tags
Green List (high evidence)	ORC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Meier-Gorlin syndrome Tags
Green List (high evidence)	OSMR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Amyloidosis, primary cutaneous Tags
Green List (high evidence)	OSTM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis Tags
Green List (high evidence)	OTC	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Ornithine transcarbamylase deficiency Tags
Green List (high evidence)	OTOA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	OTOF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	OTOGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	P2RY12	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 8, MIM# 609821 MONDO:0012354 Tags
Green List (high evidence)	PAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Phenylketonuria Tags
Green List (high evidence)	PAK3	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mental retardation syndrome, X-linked Tags
Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Fanconi anemia, complementation group N, MIM# 610832 Tags
Green List (high evidence)	PANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 1 Tags
Green List (high evidence)	PAX3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Waardenburg syndrome Tags
Green List (high evidence)	PAX6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Aniridia Tags
Green List (high evidence)	PAX8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Tags
Green List (high evidence)	PC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate carboxylase deficiency Tags
Green List (high evidence)	PCCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Propionicacidemia Tags
Green List (high evidence)	PCCB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Propionicacidemia Tags
Green List (high evidence)	PCDH15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome Tags
Green List (high evidence)	PCNT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Microcephalic osteodysplastic primordial dwarfism type 2 Tags
Green List (high evidence)	PDE4D	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Acrodysostosis 2, with or without hormone resistance Tags
Green List (high evidence)	PDHA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate dehydrogenase deficiency Tags
Green List (high evidence)	PDHX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate dehydrogenase complex deficiency Tags
Green List (high evidence)	PDX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pancreatic agenesis, MIM# # 260370 Tags
Green List (high evidence)	PDZD7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome Tags
Green List (high evidence)	PEX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Zellweger syndrome Tags
Green List (high evidence)	PEX7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata Refsum disease Tags
Green List (high evidence)	PFKM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease 7 Tags
Green List (high evidence)	PHF6	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Borjeson-Forssman-Lehmann syndrome Tags
Green List (high evidence)	PHKA2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Phosphorylase kinase deficiency Tags
Green List (high evidence)	PHKB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Phosphorylase kinase deficiency Tags
Green List (high evidence)	PHKG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Phosphorylase kinase deficiency Tags
Green List (high evidence)	PHYH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Refsum disease Tags
Green List (high evidence)	PIEZO2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis, distal, type 5 Tags
Green List (high evidence)	PIGA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Tags
Green List (high evidence)	PIK3CD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 14, MIM # 615513 Tags
Green List (high evidence)	PINK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Parkinson disease 6, early onset Tags
Green List (high evidence)	PKD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Polycystic kidney disease Tags
Green List (high evidence)	PKD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Polycystic kidney disease Tags
Green List (high evidence)	PKHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Polycystic kidney and hepatic disease Tags
Green List (high evidence)	PKLR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate kinase deficiency Tags
Green List (high evidence)	PLA2G6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1 Tags
Green List (high evidence)	PLCE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nephrotic syndrome Tags
Green List (high evidence)	PLEC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy Epidermolysis bullosa simplex Tags
Green List (high evidence)	PLG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hereditary angioedema-4 (HAE4), MIM#619360 Plasminogen deficiency, type I, MIM# 217090 Tags
Green List (high evidence)	PLOD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type Tags
Green List (high evidence)	PLP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Spastic paraplegia 2, X-linked Pelizaeus-Merzbacher disease Tags
Green List (high evidence)	PLS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness Tags
Green List (high evidence)	PMM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ia Tags
Green List (high evidence)	PMP22	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	PNKD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Paroxysmal nonkinesiogenic dyskinesia Tags
Green List (high evidence)	PNKP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Microcephaly - seizures - developmental delay Tags
Green List (high evidence)	PNPO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epileptic encephalopathy, neonatal Tags
Green List (high evidence)	POLG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes POLG-Related Ataxia Neuropathy Spectrum Disorders Tags
Green List (high evidence)	POLH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum Tags
Green List (high evidence)	POMGNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) Tags
Green List (high evidence)	POMT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Walker-Warburg syndrome Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 Tags
Green List (high evidence)	POMT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 Tags
Green List (high evidence)	POR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Disordered steroidogenesis with and without Antley-Bixler syndrome Tags
Green List (high evidence)	PORCN	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Focal dermal hypoplasia Tags
Green List (high evidence)	POU1F1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pituitary hormone deficiency Tags
Green List (high evidence)	POU3F4	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, X-linked Tags
Green List (high evidence)	POU4F3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal dominant Tags
Green List (high evidence)	PPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neuronal ceroid lipofuscinosis Tags
Green List (high evidence)	PQBP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mental retardation Tags
Green List (high evidence)	PRF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2 Tags
Green List (high evidence)	PRKAR1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Carney complex Tags
Green List (high evidence)	PROC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thrombophilia due to protein C deficiency Tags
Green List (high evidence)	PROKR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypogonadotropic hypogonadism Tags
Green List (high evidence)	PROP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 2 Tags
Green List (high evidence)	PROS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Protein S deficiency Tags
Green List (high evidence)	PRX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	PSAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Metachromatic leukodystrophy Tags
Green List (high evidence)	PTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nevoid basal cell carcinoma syndrome Tags
Green List (high evidence)	PTEN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cowden disease Bannayan-Riley-Ruvalcaba syndrome Tags
Green List (high evidence)	PTH1R	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Metaphyseal chondrodysplasia Tags
Green List (high evidence)	PTPN11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Noonan syndrome Tags
Green List (high evidence)	PTPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 Tags
Green List (high evidence)	PTS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, A Tags
Green List (high evidence)	PYGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease VI Tags
Green List (high evidence)	PYGM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes McCardle disease MIM# 608455 Tags
Green List (high evidence)	QDPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Dihydropteridine reductase deficiency Tags
Green List (high evidence)	RAB23	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carpenter syndrome Tags
Green List (high evidence)	RAB27A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Griscelli syndrome Tags
Green List (high evidence)	RAB3GAP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Warburg micro syndrome Tags
Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Warburg micro syndrome 2, MIM# 614225 Tags
Green List (high evidence)	RAB7A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	RAF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Noonan syndrome Tags
Green List (high evidence)	RAG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Omenn syndrome Tags
Green List (high evidence)	RAG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Omenn syndrome Tags
Green List (high evidence)	RAI1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Potocki-Lupski syndrome Smith-Magenis syndrome Tags
Green List (high evidence)	RAPSN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome Tags
Green List (high evidence)	RASA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Capillary malformation-arteriovenous malformation Tags
Green List (high evidence)	RB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Retinoblastoma Tags
Green List (high evidence)	RBM8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thrombocytopaenia-absent radius syndrome Tags
Green List (high evidence)	RDX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 24, MIM# 611022 Tags
Green List (high evidence)	RECQL4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Baller-Gerold syndrome Rothmund-Thomson syndrome Rapadilino syndrome Tags
Green List (high evidence)	REN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Renal tubular dysgenesis Tags
Green List (high evidence)	RET	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Multiple endocrine neoplasia IIA Multiple endocrine neoplasia IIB Tags
Green List (high evidence)	RETREG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142 Tags
Green List (high evidence)	RMRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cartilage-hair hypoplasia Tags
Green List (high evidence)	RNASEH2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome Tags
Green List (high evidence)	RNASEH2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome Tags
Green List (high evidence)	RNASEH2C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome Tags
Green List (high evidence)	ROR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Brachydactyly, type B1 Robinow syndrome Tags
Green List (high evidence)	RPGR	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Retinitis pigmentosa Tags
Green List (high evidence)	RPGRIP1L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Meckel syndrome Joubert syndrome Tags
Green List (high evidence)	RPL11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia Tags
Green List (high evidence)	RPL5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia Tags
Green List (high evidence)	RPS15	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia Tags
Green List (high evidence)	RPS17	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia Tags
Green List (high evidence)	RPS19	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia Tags
Green List (high evidence)	RPS24	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia Tags
Green List (high evidence)	RPS26	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia Tags
Green List (high evidence)	RPS6KA3	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Coffin-Lowry syndrome Tags
Green List (high evidence)	RRM2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome Tags
Green List (high evidence)	RS1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Retinoschisis, X linked Tags
Green List (high evidence)	RSPH4A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ciliary dyskinesia, primary Tags
Green List (high evidence)	RSPH9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ciliary dyskinesia, primary Tags
Green List (high evidence)	RUNX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cleidocranial dysostosis Tags
Green List (high evidence)	RYR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene Expert Review Green Phenotypes Malignant hyperthermia, multiminicore disease MIM#180901 Tags
Green List (high evidence)	RYR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Ventricular tachycardia, catecholaminergic polymorphic Arrhythmogenic right ventricular dysplasia 2 Tags
Green List (high evidence)	SACS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Spastic ataxia Charlevoix-Saguenay type Tags
Green List (high evidence)	SALL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Townes-Brocks syndrome Tags
Green List (high evidence)	SAMHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome Tags
Green List (high evidence)	SBDS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Shwachman-Bodian-Diamond syndrome Tags
Green List (high evidence)	SCN11A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Episodic pain syndrome Tags
Green List (high evidence)	SCN1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Dravet syndrome Tags
Green List (high evidence)	SCNN1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudohypoaldosteronism Tags
Green List (high evidence)	SCNN1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Pseudohypoaldosteronism, type I MIM# 264350 Tags
Green List (high evidence)	SCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Tags
Green List (high evidence)	SDHD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes Tags
Green List (high evidence)	SELENON	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Myopathy, congenital, with fiber-type disproportion Muscular dystrophy, rigid spine Tags
Green List (high evidence)	SEPT9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Amyotrophy, hereditary neuralgic Tags
Green List (high evidence)	SERPINA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Antitrypsin alpha 1 deficiency Emphysema due to AAT deficiency, OMIM #107400 Tags
Green List (high evidence)	SETBP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Schinzel-Giedion syndrome Tags
Green List (high evidence)	SETX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ataxia-ocular apraxia 2 Tags
Green List (high evidence)	SFTPB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Surfactant metabolism dysfunction, pulmonary Tags
Green List (high evidence)	SFTPC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620 Interstitial lung disease Tags
Green List (high evidence)	SGCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2D Tags
Green List (high evidence)	SGCB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2E Tags
Green List (high evidence)	SGCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 Tags
Green List (high evidence)	SGCG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2C Tags
Green List (high evidence)	SGSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) Tags
Green List (high evidence)	SH2D1A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Lymphoproliferative syndrome Tags
Green List (high evidence)	SH3TC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease Tags
Green List (high evidence)	SHANK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green List (high evidence)	SHH	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Holoprosencephaly-3 Tags
Green List (high evidence)	SIL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Marinesco-Sjogren syndrome Tags
Green List (high evidence)	SIX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Branchiootorenal syndrome Tags
Green List (high evidence)	SIX3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Holoprosencephaly-2 Tags
Green List (high evidence)	SKI	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Shprintzen-Goldberg syndrome Tags
Green List (high evidence)	SLC12A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bartter syndrome Tags
Green List (high evidence)	SLC12A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Gitelman syndrome Tags
Green List (high evidence)	SLC12A6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Agenesis of the corpus callosum with peripheral neuropathy Tags
Green List (high evidence)	SLC16A2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Allan-Herndon-Dudley syndrome Tags
Green List (high evidence)	SLC17A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sialic acid storage disorder, infantile Tags
Green List (high evidence)	SLC19A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome Tags
Green List (high evidence)	SLC19A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Basal ganglia disease, biotin-responsive Tags
Green List (high evidence)	SLC22A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carnitine deficiency, systemic primary Tags
Green List (high evidence)	SLC25A13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Citrullinemia Tags
Green List (high evidence)	SLC25A15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Tags
Green List (high evidence)	SLC25A20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency Tags
Green List (high evidence)	SLC25A38	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Tags
Green List (high evidence)	SLC25A4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Progressive external ophthalmoplegia Tags
Green List (high evidence)	SLC26A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Achondrogenesis 1B Tags
Green List (high evidence)	SLC26A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Chloride diarrhea, congenital, Finnish type Tags
Green List (high evidence)	SLC26A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pendred syndrome Tags
Green List (high evidence)	SLC27A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis prematurity syndrome Tags
Green List (high evidence)	SLC2A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes GLUT1 deficiency syndrome 1 Tags
Green List (high evidence)	SLC2A10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arterial tortuosity syndrome Tags
Green List (high evidence)	SLC34A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pulmonary alveolar microlithiasis Tags
Green List (high evidence)	SLC34A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypophosphatemic rickets with hypercalciuria Tags
Green List (high evidence)	SLC35D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Schneckenbecken dysplasia Tags
Green List (high evidence)	SLC37A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease Ib Tags
Green List (high evidence)	SLC39A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Acrodermatitis enteropathica Tags
Green List (high evidence)	SLC3A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cystinuria Tags
Green List (high evidence)	SLC45A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Oculocutaneous albinism, type IV Tags
Green List (high evidence)	SLC46A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Folate malabsorption, hereditary Tags
Green List (high evidence)	SLC4A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Spherocytosis Tags
Green List (high evidence)	SLC4A11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Corneal endothelial dystrophy Tags
Green List (high evidence)	SLC5A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Renal glucosuria Tags
Green List (high evidence)	SLC5A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 1 Tags
Green List (high evidence)	SLC6A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Hartnup disorder, MIM # 234500 Tags
Green List (high evidence)	SLC6A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperekplexia 3 Tags
Green List (high evidence)	SLC6A8	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Creatine deficiency syndrome, X-linked Tags
Green List (high evidence)	SLC7A7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Lysinuric protein intolerance Tags
Green List (high evidence)	SLC7A9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cystinuria Tags
Green List (high evidence)	SLC9A6	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Christianson syndrome Tags
Green List (high evidence)	SLCO2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 Tags
Green List (high evidence)	SMAD3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome Tags
Green List (high evidence)	SMAD4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Juvenile polyposis syndrome Tags
Green List (high evidence)	SMARCAL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Schimke immunoosseous dysplasia Tags
Green List (high evidence)	SMC1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cornelia de Lange syndrome Tags
Green List (high evidence)	SMN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Spinal muscular atrophy Tags
Green List (high evidence)	SMPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Niemann-Pick disease, type A Niemann-Pick disease, type B Tags
Green List (high evidence)	SMPX	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, X-linked Tags
Green List (high evidence)	SOX10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Shah-Waardenburg syndrome Tags
Green List (high evidence)	SOX9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Campomelic dysplasia Tags
Green List (high evidence)	SP110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hepatic venoocclusive disease with immunodeficiency Tags
Green List (high evidence)	SPEG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Centronuclear myopathy 5, MIM# 615959 Tags
Green List (high evidence)	SPINK5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Netherton syndrome 1 Netherton syndrome Tags
Green List (high evidence)	SPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sepiapterin reductase deficiency Tags
Green List (high evidence)	SPRED1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Legius syndrome Tags
Green List (high evidence)	SPTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Elliptocytosis Tags
Green List (high evidence)	SPTB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Spherocytosis Tags
Green List (high evidence)	SPTLC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type IA Tags
Green List (high evidence)	SRCAP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Floating-Harbor syndrome Tags
Green List (high evidence)	STAC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Myopathy, congenital, Baily-Bloch, MIM# 255995 Tags
Green List (high evidence)	STAR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital lipoid adrenal hyperplasia, Tags
Green List (high evidence)	STAT3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome Tags
Green List (high evidence)	STK11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Peutz-Jeghers syndrome Tags
Green List (high evidence)	STRA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Microphthalmia, syndromic Tags
Green List (high evidence)	STRC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	STS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, X-linked Tags
Green List (high evidence)	STX11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4 Tags
Green List (high evidence)	STXBP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile Tags
Green List (high evidence)	STXBP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis Tags
Green List (high evidence)	SUCLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) Tags
Green List (high evidence)	SUCLG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Tags
Green List (high evidence)	SUOX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sulphite oxidase deficiency Tags
Green List (high evidence)	SURF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Leigh syndrome, due to COX deficiency Tags
Green List (high evidence)	TAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Tyrosinemia, type II Tags
Green List (high evidence)	TAZ	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Barth syndrome Tags
Green List (high evidence)	TBC1D24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome Tags
Green List (high evidence)	TBX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes DiGeorge syndrome Tags
Green List (high evidence)	TBX5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Holt-Oram syndrome Tags
Green List (high evidence)	TCIRG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, infantile malignant Tags
Green List (high evidence)	TCOF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Treacher Collins syndrome 1 Tags
Green List (high evidence)	TECTA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness Tags
Green List (high evidence)	TFAP2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Branchiooculofacial syndrome Tags
Green List (high evidence)	TFAP2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Char syndrome Tags
Green List (high evidence)	TFG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hereditary motor and sensory neuropathy Tags
Green List (high evidence)	TG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 3 Tags
Green List (high evidence)	TGFBR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome Tags
Green List (high evidence)	TGFBR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome Tags
Green List (high evidence)	TGM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive Tags
Green List (high evidence)	TGM5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Peeling skin syndrome, acral type Tags
Green List (high evidence)	TH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Tyrosine hydroxylase deficiency Tags
Green List (high evidence)	THRA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 6 Tags
Green List (high evidence)	THRB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid hormone resistance Tags
Green List (high evidence)	TIMM8A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome Tags
Green List (high evidence)	TK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome Tags
Green List (high evidence)	TMC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness Tags
Green List (high evidence)	TMEM43	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 5 Tags
Green List (high evidence)	TMEM67	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Meckel syndrome Joubert syndrome Tags
Green List (high evidence)	TMIE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	TMPRSS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	TNFRSF11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Paget disease Tags
Green List (high evidence)	TNFSF11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 2 Tags
Green List (high evidence)	TNNI2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Distal arthrogryposis syndrome 2b Tags
Green List (high evidence)	TNNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy, Amish type Tags
Green List (high evidence)	TNNT3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthyrgryposis, distal Tags
Green List (high evidence)	TP53	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Li-Fraumeni syndrome Tags
Green List (high evidence)	TPM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Arthrogryposis multiplex congenita, distal Tags
Green List (high evidence)	TPM3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy Congenital fiber-type disproportion myopathy Tags
Green List (high evidence)	TPO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 2A Tags
Green List (high evidence)	TPP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neuronal ceroid lipofuscinosis Tags
Green List (high evidence)	TRAPPC2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Spondyloepiphyseal dysplasia tarda Tags
Green List (high evidence)	TREX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 1 Tags
Green List (high evidence)	TRIM32	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2H Tags
Green List (high evidence)	TRIM37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mulibrey nanism syndrome Tags
Green List (high evidence)	TRIOBP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive Tags
Green List (high evidence)	TRMU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Liver failure, transient infantile Tags
Green List (high evidence)	TRPM4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cardiac conduction disease Tags
Green List (high evidence)	TSC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Tuberous sclerosis 1 Tags
Green List (high evidence)	TSC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Tuberous sclerosis 2 Tags
Green List (high evidence)	TSEN54	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pontocerebellar hypoplasia type 4 Tags
Green List (high evidence)	TSHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothryoidism, congenital, nongoitrous 4 Tags
Green List (high evidence)	TSHR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism Tags
Green List (high evidence)	TTC21B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Tags
Green List (high evidence)	TTC37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Trichohepatoenteric syndrome Tags
Green List (high evidence)	TTC7A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Immunodeficiency, combined, with intestinal atresias Tags
Green List (high evidence)	TTPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency Tags
Green List (high evidence)	TTR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Amyloidosis, hereditary, transthyretin-related Tags
Green List (high evidence)	TWIST1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Saethre-Chotzen syndrome Tags
Green List (high evidence)	TWNK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Spinocerebellar ataxia infantile-onset Tags
Green List (high evidence)	TYMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome Tags
Green List (high evidence)	TYR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Albinism, oculocutaneous 1 Tags
Green List (high evidence)	UBR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Johanson-Blizzard syndrome Tags
Green List (high evidence)	UGT1A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Crigler-Najjar syndrome Tags
Green List (high evidence)	UMOD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nephropathy Tags
Green List (high evidence)	UNC13D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 Tags
Green List (high evidence)	UROD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Porphyria, hepatoerythropoietic Tags
Green List (high evidence)	UROS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Porphyria, congenital erythropoietic Tags
Green List (high evidence)	USH1C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome 1 Tags
Green List (high evidence)	USH1G	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome 1 Tags
Green List (high evidence)	USH2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome 2 Tags
Green List (high evidence)	VCAN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Wagner syndrome Tags
Green List (high evidence)	VCP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Tags
Green List (high evidence)	VDR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Vitamin D-dependent rickets Tags
Green List (high evidence)	VHL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes von Hippel-Lindau syndrome Tags
Green List (high evidence)	VIPAS39	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis, renal dysfunction and cholestasis Tags
Green List (high evidence)	VLDLR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Tags
Green List (high evidence)	VPS13A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Choreoacanthocytosis Tags
Green List (high evidence)	VPS13B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cohen syndrome Tags
Green List (high evidence)	VPS33B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis renal dysfunction cholestasis syndrome Tags
Green List (high evidence)	WAS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Wiskott-Aldrich syndrome Tags
Green List (high evidence)	WDR62	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Tags
Green List (high evidence)	WFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wolfram syndrome Tags
Green List (high evidence)	WHRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Usher syndrome, type 2D, MIM# 611383 Deafness, autosomal recessive 31, MIM# 607084 Tags
Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Tags
Green List (high evidence)	WRN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Werner syndrome Tags
Green List (high evidence)	XPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum Tags
Green List (high evidence)	XPC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum Tags
Green List (high evidence)	ZAP70	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes ZAP70-related severe combined immunodeficiency Tags
Green List (high evidence)	ZEB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Mowat-Wilson syndrome Tags
Green List (high evidence)	ZIC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Holoprosencephaly-5 Tags
Green List (high evidence)	ZIC3	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Heterotaxy Tags
Green List (high evidence)	ZMPSTE24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Restrictive dermopathy Tags
Green List (high evidence)	ZNF469	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Brittle cornea syndrome Tags
Amber List (moderate evidence)	ACTA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic Tags
Amber List (moderate evidence)	AIP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Pituitary adenoma Tags
Amber List (moderate evidence)	BMPR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Pulmonary hypertension, familial primary Tags
Amber List (moderate evidence)	CACNA1C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Brugada syndrome Tags
Amber List (moderate evidence)	CDKN2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Melanoma Tags
Amber List (moderate evidence)	CP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aceruloplasminaemia Tags
Amber List (moderate evidence)	CRYAB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Myofibrillar myopathy Cardiomyopathy, dilated Tags
Amber List (moderate evidence)	DES	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, dilated Myopathy, myofibrillar Tags
Amber List (moderate evidence)	DKC1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags
Amber List (moderate evidence)	DMD	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy, dilated Tags
Amber List (moderate evidence)	DSC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular cardiomyopathy Tags
Amber List (moderate evidence)	DSG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular cardiomyopathy Tags
Amber List (moderate evidence)	DSP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia/cardiomyopathy Epidermolysis bullosa, lethal acantholytic Tags
Amber List (moderate evidence)	GABRG2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Amber Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681 Epileptic encephalopathy, early infantile, 74 MIM# 618396 Febrile seizures, familial, 8 MIM# 607681 Tags
Amber List (moderate evidence)	GCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dystonia, dopa-responsive Tags
Amber List (moderate evidence)	GJA5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Atrial fibrillation Tags
Amber List (moderate evidence)	GPD1L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Brugada syndrome Tags
Amber List (moderate evidence)	JUP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Naxos disease Arrhythmogenic right ventricular dysplasia 12 Tags
Amber List (moderate evidence)	KCNA5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Atrial fibrillation Tags
Amber List (moderate evidence)	KCNE1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Jervell and Lange-Nielsen syndrome Long QT syndrome-5 Tags
Amber List (moderate evidence)	KCNE2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Long QT syndrome-6 Tags
Amber List (moderate evidence)	KCNH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Long QT syndrome-2 Tags
Amber List (moderate evidence)	KCNQ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Jervell and Lange-Nielsen syndrome Long QT syndrome-1 Tags
Amber List (moderate evidence)	KRIT1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Cerebral cavernous malformations-1 MIM# 116860 Tags
Amber List (moderate evidence)	LMNA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Emery-Dreifuss muscular dystrophy 2 Charcot-Marie-Tooth disease Dilated cardiomyopathy Tags
Amber List (moderate evidence)	MCCC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Amber Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency Tags
Amber List (moderate evidence)	MTHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Amber Phenotypes Homocystinuria due to MTHFR deficiency Tags
Amber List (moderate evidence)	MYH11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 4 Tags
Amber List (moderate evidence)	MYL2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, familial hypertrophic, 10 Tags
Amber List (moderate evidence)	MYL3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, familial hypertrophic, 8 Tags
Amber List (moderate evidence)	MYLK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 7 Tags
Amber List (moderate evidence)	NKX2-5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Congenital heart disease Tags
Amber List (moderate evidence)	PCSK9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Hypercholesterolemia Tags
Amber List (moderate evidence)	PHOX2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Central hypoventilation syndrome Tags
Amber List (moderate evidence)	PKP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia 9 Tags
Amber List (moderate evidence)	RBM20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, dilated, 1DD Tags
Amber List (moderate evidence)	SCN5A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Brugada syndrome Long QT syndrome Tags
Amber List (moderate evidence)	SDHAF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes Tags
Amber List (moderate evidence)	SDHB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes Tags
Amber List (moderate evidence)	SDHC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes Tags
Amber List (moderate evidence)	SNTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Long QT syndrome Tags
Amber List (moderate evidence)	TERC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags
Amber List (moderate evidence)	TERT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags
Amber List (moderate evidence)	TINF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags
Amber List (moderate evidence)	TNNC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, dilated Tags
Amber List (moderate evidence)	TNNI3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Familial hypertrophic cardiomyopathy Cardiomyopathy, dilated Tags
Amber List (moderate evidence)	TNNT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Familial hypertrophic cardiomyopathy Cardiomyopathy, dilated Tags
Amber List (moderate evidence)	TPM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, hypertrophic Tags
Amber List (moderate evidence)	TTN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Centronuclear myopathy Cardiomyopathy, dilated Tags
Amber List (moderate evidence)	VCL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, dilated Tags
Amber List (moderate evidence)	VWF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes von Willebrand disease Tags
Amber List (moderate evidence)	WT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Frasier syndrome Denys-Drash syndrome Wilms tumor, type 1 Tags
Red List (low evidence)	AARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy, and ovarian failure in females Tags
Red List (low evidence)	ABAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes GABA-transaminase deficiency Tags
Red List (low evidence)	ABCB7	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Sideroblastic anaemia and ataxia Tags
Red List (low evidence)	ABCC9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation, familial Cardiomyopathy, dilated Hypertrichotic osteochondrodysplasia Tags
Red List (low evidence)	ABCD4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Red List (low evidence)	ACADL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sudden infant death Tags
Red List (low evidence)	ACADS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 Tags
Red List (low evidence)	ACADSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes 2-Methylbutyryl-CoA dehydrogenase deficiency Tags
Red List (low evidence)	ACBD5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Thrombocytopaenia Tags
Red List (low evidence)	ACO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cerebellar-retinal degeneration, infantile Tags
Red List (low evidence)	ACSF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Combined malonic and methylmalonic aciduria Tags
Red List (low evidence)	ACTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Nemaline myopathy Congenital myopathy with fiber type disproportion Tags
Red List (low evidence)	ACTB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Neutrophil dysfunction and recurrent infection Baraitser-Winter syndrome Tags
Red List (low evidence)	ACTC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Left ventricular noncompaction Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Atrial septal defect Tags
Red List (low evidence)	ACTN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red List (low evidence)	ACVR2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Left-right axis malformation Tags
Red List (low evidence)	ADAM17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Neonatal inflammatory skin and bowel disease Tags
Red List (low evidence)	ADAMTS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ehlers-Danlos syndrome VIIc Tags
Red List (low evidence)	AGPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Rhizomelic chondrodysplasia punctata, type 3 Tags
Red List (low evidence)	AGT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal tubular dysgenesis Tags
Red List (low evidence)	AGTR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal tubular dysgenesis Tags
Red List (low evidence)	AHSP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Thalassaemia Tags
Red List (low evidence)	AK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to adenylate kinase deficiency Tags
Red List (low evidence)	AKAP9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Long QT syndrome Tags
Red List (low evidence)	AKT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Severe insulin resistance and diabetes mellitus Tags
Red List (low evidence)	AKT3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Tags
Red List (low evidence)	ALDH1A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red List (low evidence)	ALDH4A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperprolinemia, type II Tags
Red List (low evidence)	ALDOA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Aldolase A deficiency Tags
Red List (low evidence)	ALG11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation type 1P Tags
Red List (low evidence)	ALG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ii Tags
Red List (low evidence)	AMACR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect, congenital, 4 Tags
Red List (low evidence)	AMPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Adenosine monophosphate deaminase deficiency Tags
Red List (low evidence)	ANKRD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Cardiomyopathy, dilated Tags
Red List (low evidence)	ANO5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Gnathodiaphyseal dysplasia Muscular dystrophy, limb-girdle, type 2L Tags
Red List (low evidence)	AP1S3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pustular psoriasis Tags
Red List (low evidence)	APOE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sea-blue histiocyte disease Tags
Red List (low evidence)	APP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Alzheimer disease 1, familial Tags
Red List (low evidence)	ARHGAP31	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Syndromic cutis aplasia & limb anomalies Tags
Red List (low evidence)	ARHGEF9	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperekplexia and epilepsy Tags
Red List (low evidence)	ARID1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Coffin-Siris syndrome Tags
Red List (low evidence)	ARL13B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red List (low evidence)	ARSE	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Chondrodysplasia punctata, X-linked recessive Tags
Red List (low evidence)	ASCL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital central hypoventilation Tags
Red List (low evidence)	ASNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Microcephaly, intellectual disability, cerebral atrophy & intractable seizures Tags
Red List (low evidence)	ATIC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes AICA-Ribosiduria Tags
Red List (low evidence)	ATN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Dentatorubral-pallidoluysian atrophy 1 Tags
Red List (low evidence)	ATP1A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Rapid-onset dystonia-parkinsonism Tags
Red List (low evidence)	ATP6AP2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes X-linked recessive intellectual deficit - epilepsy Tags
Red List (low evidence)	ATR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Seckel syndrome Tags
Red List (low evidence)	AXL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypogonadotropic hypogonadism Tags
Red List (low evidence)	B3GAT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Tags
Red List (low evidence)	B4GALT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes CDG syndrome type IId Tags
Red List (low evidence)	B9D2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meckel syndrome Tags
Red List (low evidence)	BAG3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Myopathy, myofibrillar Cardiomyopathy, dilated Tags
Red List (low evidence)	BANF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Progeroid syndrome Tags
Red List (low evidence)	BARD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red List (low evidence)	BCL9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	BDNF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Central hypoventilation syndrome Tags
Red List (low evidence)	BLOC1S3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 8 Tags
Red List (low evidence)	BLOC1S6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-pudlak syndrome 9 Tags
Red List (low evidence)	BNC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Total anomalous pulmonary venous return Tags
Red List (low evidence)	BPGM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Erythrocytosis due to bisphosphoglycerate mutase deficiency Tags
Red List (low evidence)	BRCA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Breast-ovarian cancer, familial, 1 Tags
Red List (low evidence)	BRCA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Breast-ovarian cancer, familial, 2 Fanconi anemia, complementation group D1 Tags
Red List (low evidence)	BVES	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	C3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CACNA1D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sinoatrial node dysfunction and deafness Tags
Red List (low evidence)	CACNA1S	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Malignant hyperthermia Tags
Red List (low evidence)	CACNA2D1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	CACNB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	CARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epileptic encephalopathy Tags
Red List (low evidence)	CASP10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Autoimmune lymphoproliferative syndrome II Tags
Red List (low evidence)	CAVIN4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	CCDC103	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	CCDC50	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal dominant 44 , MIM# 607453 Tags
Red List (low evidence)	CCDC78	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital myopathy with prominent internal nuclei and atypical cores Tags
Red List (low evidence)	CCDC88C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hydrocephalus Tags
Red List (low evidence)	CD2AP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glomerulosclerosis, focal segmental, 3 Tags
Red List (low evidence)	CD36	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Platelet glycoprotein IV deficiency Tags
Red List (low evidence)	CD46	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CD96	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes C syndrome Tags
Red List (low evidence)	CDH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Orofacial clefts Gastric cancer Tags
Red List (low evidence)	CDON	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Holoprosencephaly Tags
Red List (low evidence)	CEACAM16	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss, autosomal dominant Tags
Red List (low evidence)	CENPJ	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary microcephaly Tags
Red List (low evidence)	CEP41	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red List (low evidence)	CFB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CFD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Complement factor D deficiency Tags
Red List (low evidence)	CFH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CFHR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CFHR3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CFHR4	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic-uremic syndrome, atypical, susceptibility to Tags
Red List (low evidence)	CFHR5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CFI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	CHEK2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Breast cancer, susceptibility to Tags
Red List (low evidence)	CHRM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	CHRNA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy Tags
Red List (low evidence)	CHRNB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital myasthenic syndrome Tags
Red List (low evidence)	CHST3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Larsen syndrome Tags
Red List (low evidence)	CHSY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Temtamy preaxial brachydactyly syndrome Tags
Red List (low evidence)	CISD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Wolfram syndrome Tags
Red List (low evidence)	CITED2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart defects Tags
Red List (low evidence)	CLCN1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myotonia congenita, dominant, MIM# 160800 Myotonia congenita, recessive, MIM# 255700 Tags
Red List (low evidence)	CLDN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Tags
Red List (low evidence)	CLMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital short-bowel syndrome Tags
Red List (low evidence)	CNTNAP2	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism spectrum disorder Tags
Red List (low evidence)	COG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIj Tags
Red List (low evidence)	COG7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIe Tags
Red List (low evidence)	COQ2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Coenzyme Q10 deficiency, primary, 1 Tags
Red List (low evidence)	COQ6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Nephrotic syndrome with sensorineural deafness Tags
Red List (low evidence)	COX4I2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Tags
Red List (low evidence)	CPOX	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Coproporphyria Tags
Red List (low evidence)	CPZ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism Tags
Red List (low evidence)	CR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypogammaglobulinaemia Tags
Red List (low evidence)	CRELD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiac atrioventricular septal defect Tags
Red List (low evidence)	CSF1R	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids Tags
Red List (low evidence)	CSF2RB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary alveolar proteinosis Tags
Red List (low evidence)	CSRP3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic, 12 Cardiomyopathy, dilated, 1M Tags
Red List (low evidence)	CSTA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Exfoliative ichthyosis Tags
Red List (low evidence)	CTDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital cataracts - facial dysmorphism - neuropathy Tags
Red List (low evidence)	CTF1	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	CYCS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Thrombocytopenia 4 Tags
Red List (low evidence)	CYP7A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Tags
Red List (low evidence)	CYP7B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cholestasis, severe Tags
Red List (low evidence)	DAG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 Tags
Red List (low evidence)	DAPK3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	DBH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dopamine beta-hydroxylase deficiency Tags
Red List (low evidence)	DCTN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	DDHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spastic paraplegia Tags
Red List (low evidence)	DDOST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ir Tags
Red List (low evidence)	DDR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type Tags
Red List (low evidence)	DECR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes 2,4-Dienoyl-CoA reductase deficiency Tags
Red List (low evidence)	DGKE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome, atypical Tags
Red List (low evidence)	DHCR24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Desmosterolosis Tags
Red List (low evidence)	DIABLO	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal dominant Tags
Red List (low evidence)	DLC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	DNAAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	DNAAF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	DNAAF5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	DNAI2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	DNAJC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes 3-methylglutaconic aciduria, type V Tags
Red List (low evidence)	DNAJC5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Neuronal ceroid lipofuscinosis, adult-onset Tags
Red List (low evidence)	DNAL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	DPM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ie Tags
Red List (low evidence)	DPP6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Ventricular fibrillation, paroxysmal familial, 2 Tags
Red List (low evidence)	DPYD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dihydropyrimidine dehydrogenase deficiency Tags
Red List (low evidence)	DTHD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber congenital amaurosis with myopathy Tags
Red List (low evidence)	DTNA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Left ventricular noncompaction 1 Tags
Red List (low evidence)	DTNBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 7 Tags
Red List (low evidence)	ECE1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease Tags
Red List (low evidence)	EFEMP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cutis laxa, autosomal recessive, type IB Tags
Red List (low evidence)	EFHC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 Tags
Red List (low evidence)	EIF2B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy with vanishing white matter Tags
Red List (low evidence)	EPB42	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Spherocytosis Tags
Red List (low evidence)	EPCAM	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lynch syndrome Tags
Red List (low evidence)	EPHX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypercholanemia, familial Tags
Red List (low evidence)	ERBB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lethal congenital contractural syndrome 2 Tags
Red List (low evidence)	ERCC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Xeroderma pigmentosum Tags
Red List (low evidence)	ERCC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Xeroderma pigmentosum Tags
Red List (low evidence)	ERCC4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Xeroderma pigmentosum Tags
Red List (low evidence)	F13B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Factor XIIIB deficiency MIM# 613235 Tags
Red List (low evidence)	FAAH2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism spectrum disorder Tags
Red List (low evidence)	FAM111B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis Tags
Red List (low evidence)	FANCE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Fanconi anaemia Tags
Red List (low evidence)	FANCF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Fanconi anaemia Tags
Red List (low evidence)	FANCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Fanconi anaemia Tags
Red List (low evidence)	FANCM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Fanconi anaemia Tags
Red List (low evidence)	FBLN5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Cutis laxa Age-related macular degeneration Tags
Red List (low evidence)	FHL1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Emery-Dreifuss muscular dystrophy Tags
Red List (low evidence)	FHL2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red List (low evidence)	FKBPL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Infertility Tags
Red List (low evidence)	FLG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis vulgaris Tags
Red List (low evidence)	FLNC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Tags
Red List (low evidence)	FMO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Trimethylaminuria Tags
Red List (low evidence)	FOXE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Bamforth-Lazarus syndrome Tags
Red List (low evidence)	FOXF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Disorders of sex development with cleft palate Tags
Red List (low evidence)	FOXH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart defects Tags
Red List (low evidence)	FOXN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital alopecia with T-cell immunodeficiency Tags
Red List (low evidence)	FREM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Manitoba oculotrichoanal syndrome Tags
Red List (low evidence)	FREM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Fraser syndrome Tags
Red List (low evidence)	FSCN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Retinitis pigmentosa Tags
Red List (low evidence)	FTCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glutamate formiminotransferase deficiency Tags
Red List (low evidence)	GABRA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, idiopathic generalised Tags
Red List (low evidence)	GATA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Porphyria, congenital erythropoietic Dyserythropoietic anemia with thrombocytopenia Tags
Red List (low evidence)	GATA5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Familial atrial fibrillation Tags
Red List (low evidence)	GATA6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red List (low evidence)	GATAD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated, 2B Tags
Red List (low evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Polyglucosan body disease, adult form Glycogen storage disease IV Tags
Red List (low evidence)	GCLC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Tags
Red List (low evidence)	GCSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glycine encephalopathy Tags
Red List (low evidence)	GDF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart defects Tags
Red List (low evidence)	GDNF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease Central hypoventilation syndrome Tags
Red List (low evidence)	GFER	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Tags
Red List (low evidence)	GLE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lethal arthrogryposis with anterior horn cell disease Tags
Red List (low evidence)	GLI2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Holoprosencephaly-9 Tags
Red List (low evidence)	GLIS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism Tags
Red List (low evidence)	GLRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperekplexia 2, autosomal recessive Tags
Red List (low evidence)	GLUL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital brain dysgenesis due to glutamine synthetase deficiency Tags
Red List (low evidence)	GMPPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation Tags
Red List (low evidence)	GPC4	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Simpson-Golabi-Behmel syndrome Tags
Red List (low evidence)	GPC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Omodysplasia Tags
Red List (low evidence)	GPHN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperekplexia Tags
Red List (low evidence)	GPX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to glutathione peroxidase deficiency Tags
Red List (low evidence)	GRIN2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy with neurodevelopmental defects Tags
Red List (low evidence)	GTF2H5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Trichothiodystrophy Tags
Red List (low evidence)	GUCY2C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meconium ileus Tags
Red List (low evidence)	GYG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glycogen storage disease XV Tags
Red List (low evidence)	H19	1 review 1 red	Unknown	Sources BabySeq Category A gene Expert Review Red Phenotypes Beckwith-Wiedemann Syndrome Tags
Red List (low evidence)	HAMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemochromatosis Tags
Red List (low evidence)	HARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Usher syndrome type 3B Tags
Red List (low evidence)	HAS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	HCCS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Microphthalmia Tags
Red List (low evidence)	HCN4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	HERC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism spectrum disorder Tags
Red List (low evidence)	HESX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Pituitary hypoplasia Tags
Red List (low evidence)	HFE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemochromatosis Tags
Red List (low evidence)	HFE2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemochromatosis Tags
Red List (low evidence)	HIBCH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Neurodegeneration, progressive infantile Tags
Red List (low evidence)	HK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to hexokinase deficiency Tags
Red List (low evidence)	HMBS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Porphyria, acute intermittent Tags
Red List (low evidence)	HNF1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal cysts and diabetes syndrome Tags
Red List (low evidence)	HOMEZ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	HOXA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Athabaskan brainstem dysgenesis syndrome Tags
Red List (low evidence)	HPD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Tyrosinemia, type III Tags
Red List (low evidence)	HPS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 6 Tags
Red List (low evidence)	HYDIN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	HYLS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hydrolethalus syndrome Tags
Red List (low evidence)	IFT122	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cranioectodermal dysplasia Tags
Red List (low evidence)	IFT43	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cranioectodermal dysplasia Tags
Red List (low evidence)	IFT80	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Asphyxiating thoracic dystrophy 2 Tags
Red List (low evidence)	IGBP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia Tags
Red List (low evidence)	IGF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Insulin-like growth factor deficiency Tags
Red List (low evidence)	IL10RB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Inflammatory bowel disease Tags
Red List (low evidence)	ILK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	IRS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes mellitus, noninsulin dependent Tags
Red List (low evidence)	ISCU	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy with defiency of succinate dehydrogenase Tags
Red List (low evidence)	ISL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes, type 2 Tags
Red List (low evidence)	ITGA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis Tags
Red List (low evidence)	ITGA7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital muscular dystrophy with integrin deficiency Tags
Red List (low evidence)	JPH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red List (low evidence)	KCND3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	KCNE3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	KCNE5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red List (low evidence)	KCNJ18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypokalaemic periodic paralysis Tags
Red List (low evidence)	KCNJ5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Long QT syndrome Tags
Red List (low evidence)	KCNJ8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Sudden infant death syndrom Tags
Red List (low evidence)	KCNQ1OT1	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Beckwith-Wiedemann syndrome Tags
Red List (low evidence)	KCNQ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, benign neonatal Tags
Red List (low evidence)	KCNQ3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, benign neonatal Tags
Red List (low evidence)	KDM5B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	KIF1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease Tags
Red List (low evidence)	KIF1BP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Goldberg-Shprintzen megacolon syndrome Tags
Red List (low evidence)	KIF22	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 Tags
Red List (low evidence)	KPTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Macrocephaly, neurodevelopmental delay, and seizures Tags
Red List (low evidence)	KRT18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cirrhosis, cryptogenic Tags
Red List (low evidence)	KRT6B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pachyonychia congenita Tags
Red List (low evidence)	KRT8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cirrhosis, cryptogenic Tags
Red List (low evidence)	LAMA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	LARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Infantile liver failure syndrome Tags
Red List (low evidence)	LBR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Pelger-Huet anomaly Reynolds syndrome Tags
Red List (low evidence)	LDB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Tags
Red List (low evidence)	LGI1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, familial temporal lobe, 1 Tags
Red List (low evidence)	LHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypogonadism Tags
Red List (low evidence)	LMNB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lipodystrophy, partial Tags
Red List (low evidence)	LPIN2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Majeed syndrome Tags
Red List (low evidence)	LPP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red List (low evidence)	LRRK2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Parkinson disease Tags
Red List (low evidence)	LUM	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	LYZ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyloidosis, systemic Tags
Red List (low evidence)	MAPK10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epileptic encephalopathy Tags
Red List (low evidence)	MAPT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Dementia, frontotemporal, with or without parkinsonism Tags
Red List (low evidence)	MAT1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Methionine adenosyltransferase deficiency Tags
Red List (low evidence)	MATN4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Multiple anomalies Tags
Red List (low evidence)	MCCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Red Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency Tags
Red List (low evidence)	MCEE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Methylmalonyl-CoA epimerase deficiency Tags
Red List (low evidence)	MED13L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Transposition of great arteries Tags
Red List (low evidence)	MED20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	MESP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondylocostal dysostosis, autosomal recessive 2 Tags
Red List (low evidence)	MIB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Left ventricular noncompaction Tags
Red List (low evidence)	MIR96	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss Tags
Red List (low evidence)	MLH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lynch syndrome Tags
Red List (low evidence)	MLPH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Griscelli syndrome type 3 Tags
Red List (low evidence)	MOGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glucosidase 1 deficiency Tags
Red List (low evidence)	MRPS16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial respiratory chain disorder Tags
Red List (low evidence)	MRPS22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial respiratory chain disorder Tags
Red List (low evidence)	MSH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lynch syndrome Tags
Red List (low evidence)	MSH6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lynch syndrome Tags
Red List (low evidence)	MSRB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal recessive Tags
Red List (low evidence)	MT-ND1	0 reviews	MITOCHONDRIAL	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber hereditary optic neuropathy Tags
Red List (low evidence)	MT-ND4	0 reviews	MITOCHONDRIAL	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber hereditary optic neuropathy Tags
Red List (low evidence)	MT-ND6	0 reviews	MITOCHONDRIAL	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber hereditary optic neuropathy Tags
Red List (low evidence)	MTO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypertrophic cardiomyopathy & lactic acidosis Tags
Red List (low evidence)	MUC5B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary fibrosis, idiopathic Tags
Red List (low evidence)	MYBPC3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red List (low evidence)	MYH6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Atrial septal defect Cardiomyopathy, dilated Tags
Red List (low evidence)	MYLK2	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red List (low evidence)	MYO1C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural hearing loss Tags
Red List (low evidence)	MYO1E	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Focal segmental glomerulosclerosis Tags
Red List (low evidence)	MYO1F	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural hearing loss Tags
Red List (low evidence)	MYO5A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Griscelli syndrome Tags
Red List (low evidence)	MYOM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red List (low evidence)	MYOT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Tags
Red List (low evidence)	MYOZ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red List (low evidence)	MYPN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Cardiomyopathy, dilated Tags
Red List (low evidence)	NAA10	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes N-terminal acetyltransferase deficiency Tags
Red List (low evidence)	NAA15	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	NCF4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Chronic granulomatous disease Tags
Red List (low evidence)	NEBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	NECTIN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cleft lip / palate Tags
Red List (low evidence)	NEDD4L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, photosensitive generalised Tags
Red List (low evidence)	NEXN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red List (low evidence)	NFATC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	NHP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita Tags
Red List (low evidence)	NIN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Seckel syndrome Tags
Red List (low evidence)	NKX3-2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia Tags
Red List (low evidence)	NLGN3	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism Tags
Red List (low evidence)	NLGN4X	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism Tags
Red List (low evidence)	NLRP7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hydatidiform mole Tags
Red List (low evidence)	NME8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ciliary dyskinesia, primary Tags
Red List (low evidence)	NOP10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita Tags
Red List (low evidence)	NOTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Aortic valve disease Tags
Red List (low evidence)	NPPA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red List (low evidence)	NR1H4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cholestasis, infantile Tags
Red List (low evidence)	NRG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease Tags
Red List (low evidence)	NRXN1	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism Tags
Red List (low evidence)	NSDHL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes CHILD syndrome CK syndrome Tags
Red List (low evidence)	NUB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	NUP155	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red List (low evidence)	NUP62	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Striatonigral degeneration, infantile Tags
Red List (low evidence)	OPA3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Optic atrophy 3 with cataract 3-methylglutaconic aciduria, type III Tags
Red List (low evidence)	ORC4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meier-Gorlin syndrome Tags
Red List (low evidence)	ORC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meier-Gorlin syndrome Tags
Red List (low evidence)	OTOG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal recessive Tags
Red List (low evidence)	OTUD4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypogonadotropic hypogonadism, ataxia & dementia Tags
Red List (low evidence)	P2RX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss Tags
Red List (low evidence)	PABPN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Oculopharyngeal muscular dystrophy Tags
Red List (low evidence)	PDE11A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Adrenocortical hyperplasia Tags
Red List (low evidence)	PDLIM3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	PDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Pyruvate dehydrogenase phosphatase deficiency Tags
Red List (low evidence)	PDSS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal Tags
Red List (low evidence)	PDSS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leigh syndrome with nephropathy and COQ10 deficiency Tags
Red List (low evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Peroxisome biogenesis disorder Tags
Red List (low evidence)	PEX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome Tags
Red List (low evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome Tags
Red List (low evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome Tags
Red List (low evidence)	PHKA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Phosphorylase kinase deficiency Tags
Red List (low evidence)	PHOX2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Fibrosis of extraocular muscles, congenital Tags
Red List (low evidence)	PLN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red List (low evidence)	PLOD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Bruck syndrome Tags
Red List (low evidence)	PMS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lynch syndrome Tags
Red List (low evidence)	PNPLA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis, autosomal recessive congenital Tags
Red List (low evidence)	PODXL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Focal and segmental glomerulosclerosis Tags
Red List (low evidence)	POMC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Proopiomelanocortin deficiency Tags
Red List (low evidence)	PPOX	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Porphyria variegata Tags
Red List (low evidence)	PRDM16	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Left ventricular noncompaction Tags
Red List (low evidence)	PREPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypotonia - cystinuria syndrome Tags
Red List (low evidence)	PRICKLE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 1B Tags
Red List (low evidence)	PRKAG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Glycogen storage disease of heart, lethal congenital Wolff-Parkinson-White syndrome Cardiomyopathy, hypertrophic Tags
Red List (low evidence)	PRKCSH	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Polycystic liver disease Tags
Red List (low evidence)	PRODH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperprolinemia, type I Tags
Red List (low evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Arts syndrome Charcot-Marie-Tooth disease Tags
Red List (low evidence)	PRRX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Agnathia-otocephaly complex Tags
Red List (low evidence)	PSAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Phosphoserine aminotransferase deficiency Tags
Red List (low evidence)	PSEN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Alzheimer disease, type 3 Tags
Red List (low evidence)	PSEN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Alzheimer disease, type 4 Tags
Red List (low evidence)	RAB10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	RAD51B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Breast and/or ovarian cancer Tags
Red List (low evidence)	RANGRF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	RELN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lissencephaly syndrome Tags
Red List (low evidence)	RFX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes, neonatal, with intestinal atresia Tags
Red List (low evidence)	RHAG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Rh-deficiency syndrome Tags
Red List (low evidence)	RPL35A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Diamond-Blackfan anemia Tags
Red List (low evidence)	RPS10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Diamond-Blackfan anemia Tags
Red List (low evidence)	RPS7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Diamond-Blackfan anemia Tags
Red List (low evidence)	SC5D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lathosterolosis Tags
Red List (low evidence)	SCN1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	SCN2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red List (low evidence)	SCN3B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red List (low evidence)	SCN4A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Tags
Red List (low evidence)	SCN4B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Long QT syndrome Tags
Red List (low evidence)	SCNN1G	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Pseudohypoaldosteronism Tags
Red List (low evidence)	SCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hepatic failure, early onset, and neurologic disorder Tags
Red List (low evidence)	SCP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy - dystonia - motor neuropathy Tags
Red List (low evidence)	SEC63	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Polycystic liver disease Tags
Red List (low evidence)	SEMA3A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Kallmann syndrome 1 Tags
Red List (low evidence)	SERPINB6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal recessive Tags
Red List (low evidence)	SERPINC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Thrombophilia due to antithrombin III deficiency Tags
Red List (low evidence)	SERPIND1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Heparin cofactor 2 deficiency Tags
Red List (low evidence)	SFTPA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary fibrosis, idiopathic Tags
Red List (low evidence)	SH3BP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cherubism Tags
Red List (low evidence)	SHOC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Noonan-like syndrome with loose anagen hair Tags
Red List (low evidence)	SIX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal hypodysplasia Tags
Red List (low evidence)	SIX5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Branchiootorenal syndrome Tags
Red List (low evidence)	SLC11A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Anemia, hypochromic microcytic Tags
Red List (low evidence)	SLC12A5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Febrile seizures Tags
Red List (low evidence)	SLC16A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Monocarboxylate transporter 1 deficiency Tags
Red List (low evidence)	SLC16A12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cataract, juvenile with microcornea and renal glucosuria Tags
Red List (low evidence)	SLC25A12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypomyelination, global cerebral Tags
Red List (low evidence)	SLC25A22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Early myoclonic encephalopathy Tags
Red List (low evidence)	SLC27A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Bile acid amidation defect Tags
Red List (low evidence)	SLC33A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital cataracts, hearing loss and low serum copper and ceruloplasmin Spastic paraplegia, autosomal dominant Tags
Red List (low evidence)	SLC35A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes CDG syndrome type IIf Tags
Red List (low evidence)	SLC35A2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Early-onset epileptic encephalopathy Tags
Red List (low evidence)	SLC35C1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation 2c Tags
Red List (low evidence)	SLC41A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Nephronophthisis-like nephropathy 2, MIM# 619468 Tags
Red List (low evidence)	SLC4A10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy & mental retardation Tags
Red List (low evidence)	SLC4A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities Tags
Red List (low evidence)	SLC6A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Orthostatic intolerance Tags
Red List (low evidence)	SLC9A3R1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Tags
Red List (low evidence)	SLCO1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red List (low evidence)	SLCO1B3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red List (low evidence)	SMAD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary arterial hypertension Tags
Red List (low evidence)	SMAD6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiovascular malformation, congenital Tags
Red List (low evidence)	SMAD9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary arterial hypertension Tags
Red List (low evidence)	SMO	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Medulloblastoma Tags
Red List (low evidence)	SNAP29	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Tags
Red List (low evidence)	SOD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	SOX18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome Tags
Red List (low evidence)	SP7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Osteogenesis imperfecta, type XII Tags
Red List (low evidence)	SPTLC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type IC Tags
Red List (low evidence)	ST14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis hypotrichosis syndrome Tags
Red List (low evidence)	ST3GAL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Amish infantile epilepsy syndrome Tags
Red List (low evidence)	SYNE4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss Tags
Red List (low evidence)	SYT14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 11 Tags
Red List (low evidence)	TAB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease, nonsyndromic Tags
Red List (low evidence)	TARDBP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis type 10 Tags
Red List (low evidence)	TBCE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypoparathyroidism retardation dysmorphism syndrome Tags
Red List (low evidence)	TBX20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red List (low evidence)	TCAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Muscular dystrophy, limb-girdle, type 2G Tags
Red List (low evidence)	TCTN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red List (low evidence)	TCTN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red List (low evidence)	TFR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemochromatosis type 3 Tags
Red List (low evidence)	TGFB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Camurati-Engelmann disease Tags
Red List (low evidence)	TGFB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Arrhythmogenic right ventricular dysplasia Tags
Red List (low evidence)	TGIF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Holoprosencephaly-4 Tags
Red List (low evidence)	THBD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red List (low evidence)	THBS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary hypertension Tags
Red List (low evidence)	TJP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypercholanemia, familial Tags
Red List (low evidence)	TMC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epidermodysplasia verruciformi Tags
Red List (low evidence)	TMEM216	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meckel syndrome Joubert syndrome Tags
Red List (low evidence)	TMEM237	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red List (low evidence)	TMPO	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red List (low evidence)	TNXB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ehlers-Danlos syndrome due to tenascin X deficiency Tags
Red List (low evidence)	TPRN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal recessive Tags
Red List (low evidence)	TRDN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Catecholaminergic polymorphic ventricular tachycardia Tags
Red List (low evidence)	TRH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Thyrotropin-releasing hormone deficiency Tags
Red List (low evidence)	TRHR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Thyrotropin-releasing hormone resistance, generalized Tags
Red List (low evidence)	TRIP11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Achondrogenesis type 1A Tags
Red List (low evidence)	TRPM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes ALS and Parkinson's disease Tags
Red List (low evidence)	TSFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency Tags
Red List (low evidence)	TSPEAR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural deafness Tags
Red List (low evidence)	TSPYL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sudden infant death with dysgenesis of the testes syndrome Tags
Red List (low evidence)	TUBA8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Polymicrogyria with optic nerve hypoplasia Tags
Red List (low evidence)	UBA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Spinal muscular atrophy, X-linked infantile Tags
Red List (low evidence)	UCP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperinsulinism Tags
Red List (low evidence)	UGT1A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Crigler-Najjar syndrome Tags
Red List (low evidence)	UGT1A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes UDP glucuronosyltransferase deficiency Tags
Red List (low evidence)	UQCRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial complex III deficiency Tags
Red List (low evidence)	UQCRQ	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial complex III deficiency Tags
Red List (low evidence)	UTP4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes North American Indian childhood cirrhosis Tags
Red List (low evidence)	VAMP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Spastic ataxia Tags
Red List (low evidence)	VPS53	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Progressive cerebello-cerebral atrophy Tags
Red List (low evidence)	VSX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Keratoconus Tags
Red List (low evidence)	WDR19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Nephronophthisis Tags
Red List (low evidence)	WDR35	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cranioectodermal dysplasia Tags
Red List (low evidence)	WDR36	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Glaucoma Tags
Red List (low evidence)	WNK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type I Tags
Red List (low evidence)	WNT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetra-amelia, autosomal recessive Tags
Red List (low evidence)	WNT5A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Robinow syndrome Tags
Red List (low evidence)	WNT7A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ulna and fibula absence of with severe limb deficiency Tags
Red List (low evidence)	YARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia Tags
Red List (low evidence)	ZFPM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red List (low evidence)	ZNF252P	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypothyroidism Tags
Red List (low evidence)	ZNF674	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Mental retardation Tags
No list	LMX1A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Deafness MIM#601412 Tags
No list	MPZL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Deafness, autosomal recessive 111, MIM#618145 Tags
No list	OSBPL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Deafness, autosomal dominant 67, MIM# 616340 Tags

Additional findings_Paediatric (Version 0.278)

5 reviewers

1425 Entities

131 reviewed, 895 green

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags