BRIDGE_SPEED_NEURO_20170705 (Version 0.202)

This Panel is marked as Internal

Description

Genes in this panel are BRIDGE consortium Tier 1 genes from NIHR BioResource - Rare Diseases Study (NIHRBR-RD) sent by Karyn Megy, WGS Clinical Feedback Lead which incorporates pertinent genes from the SPEED project (Specialist Pathology: Evaluating Exomes in Diagnostics project), which covers epilepsies, movement and microcephaly disorders.

The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hospital - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust.

This is an expert list and can be used as one of the evidences for curation of applicable disorders within the 100,000 Genomes Project. It is recommended that each gene is also reviewed by the curation team before concluding any gene status for inclusion in PanelApp and 100,000 Genomes Project.

This gene list BRIDGE_SPEED_NEURO_20170705 supersedes BRIDGE_SPEED_NEURO_v3.0_20170404 and BRIDGE_SPEED_NEURO_v2.0_2016041.

Evidences Key to SPEED NEURO gene list:

in_ddg2p_20141118 : In DDG2P list date 20141118. PMID:25529582.

in_ddg2p_20141118_conf : In DDG2P list date 20141118 (subset category = confirmed). PMID:25529582.

in_ddg2p_201507 : In DDG2P list date 201507. PMID:25529582.

in_ddg2p_201507_conf : In DDG2P list date 201507 (subset category = confirmed). PMID:25529582.

in_ddg2p_2_4_2017 : In DDG2P list date 2_4_2017. PMID:25529582.

in_ddg2p_2_4_2017_conf : In DDG2P list date 2_4_2017 (subset category = confirmed). PMID:25529582.

in_gilissen_2014_known : In list of known intellectual disability associated genes published by Gilissen et al., 2014. PMID:24896178.

in_omim_20150205_epilepsies : In list of genes associated with "epilepsy" (and related terms) accessed 20150205. https://omim.org/.

in_omim_20150205_movement : In list of genes associated with "movement disorder" (and related terms) accessed 20150205. https://omim.org/.

in_omim_20150205_microcephaly : In list of genes associated with "microcephaly" (and related terms) accessed 20150205. https://omim.org/.

in_movement_disorder_list : In a list of movement disorder associated genes. Personal communication.

in_UKGTN_v12 : NHS Directory of Genetic Disorders/Genes for Diagnostic Testing Version 12. https://ukgtn.nhs.uk.

in_manual : Genes of interest from literature searches and personal communication.

Panel Activity

4 reviewers

Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Catherine Snow (Genomics England)

Group: Other
Workplace: Other

1336 Entities

1336 reviewed, 1336 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1336 Entitiess
Green List (high evidence)	AAAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 Tags
Green List (high evidence)	ABAT	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes GABA-transaminase deficiency, 613163 Tags
Green List (high evidence)	ABCB11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 2, 601847 Cholestasis, benign recurrent intrahepatic, 2, 605479 Tags
Green List (high evidence)	ABCB7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Anemia, sideroblastic, with ataxia, 301310 Tags
Green List (high evidence)	ABCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pseudoxanthoma elasticum, 264800 Pseudoxanthoma elasticum, forme fruste, 177850 Arterial calcification, generalized, of infancy, 2, 614473 Tags
Green List (high evidence)	ABCC9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cardiomyopathy, dilated, 1O, 608569 Atrial fibrillation, familial, 12, 614050 Hypertrichotic osteochondrodysplasia, 239850 Tags
Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Adrenoleukodystrophy, 300100 Adrenomyeloneuropathy, adult, 300100 Tags
Green List (high evidence)	ABHD12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 Tags
Green List (high evidence)	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Chanarin-Dorfman syndrome, 275630 Tags
Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ACAD9 deficiency, 611126 Tags
Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 Tags
Green List (high evidence)	ACADS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 Tags
Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes VLCAD deficiency, 201475 Tags
Green List (high evidence)	ACAN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondyloepiphyseal dysplasia, Kimberley type, 608361 Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 Tags
Green List (high evidence)	ACAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alpha-methylacetoacetic aciduria, 203750 Tags
Green List (high evidence)	ACOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 Tags
Green List (high evidence)	ACP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 Tags
Green List (high evidence)	ACTA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aortic aneurysm, familial thoracic 6, 611788 Multisystemic smooth muscle dysfunction syndrome, 613834 Moyamoya disease 5, 614042 Tags
Green List (high evidence)	ACTB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia, juvenile-onset, 607371 Baraitser-Winter syndrome 1, 243310 Tags
Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aminoacylase 1 deficiency, 609924 Tags
Green List (high evidence)	ADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Severe combined immunodeficiency due to ADA deficiency, 102700 Adenosine deaminase deficiency, partial, 102700 Tags
Green List (high evidence)	ADAR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, 615010 Dyschromatosis symmetrica hereditaria, 127400 Tags
Green List (high evidence)	ADCY5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyskinesia, familial, with facial myokymia, 606703 Tags
Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polymicrogyria, bilateral frontoparietal, 606854 Polymicrogyria, bilateral perisylvian, 615752 Tags
Green List (high evidence)	ADGRG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 9 Tags
Green List (high evidence)	ADGRV1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Febrile seizures, familial, 4, 604352 Usher syndrome, type 2C, 605472 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Tags
Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant, 28, 615873 Tags
Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Adenylosuccinase deficiency, 103050 Tags
Green List (high evidence)	AFF2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked, FRAXE type, 309548 Tags
Green List (high evidence)	AFF4	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	AFG3L2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 28, 610246 Ataxia, spastic, 5, autosomal recessive, 614487 Tags
Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aspartylglucosaminuria, 208400 Tags
Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Sengers syndrome, 212350 Cataract 38, autosomal recessive, 614691 Tags
Green List (high evidence)	AGL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glycogen storage disease IIIa, 232400 Glycogen storage disease IIIb, 232400 Tags
Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata, type 3, 600121 Tags
Green List (high evidence)	AGXT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperoxaluria, primary, type 1, 259900 Tags
Green List (high evidence)	AHDC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	AHI1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome-3, 608629 Tags
Green List (high evidence)	AIPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leber congenital amaurosis 4, 604393 Retinitis pigmentosa, juvenile, 604393 Cone-rod dystrophy, 604393 Tags
Green List (high evidence)	AIRE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300 Tags
Green List (high evidence)	AK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	AKR1D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 2, 235555 Tags
Green List (high evidence)	AKT1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Breast cancer, somatic, 114480 Colorectal cancer, somatic, 114500 Ovarian cancer, somatic, 167000 {Schizophrenia, susceptibility to}, 181500 Proteus syndrome, somatic, 176920 Cowden syndrome 6, 615109 Tags
Green List (high evidence)	ALAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Porphyria, acute hepatic, 612740 {Lead poisoning, susceptibility to}, 612740 Tags
Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150 Tags
Green List (high evidence)	ALDH1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, isolated 8, 615113 Tags
Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Sjogren-Larsson syndrome, 270200 Tags
Green List (high evidence)	ALDH4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperprolinemia, type II, 239510 Tags
Green List (high evidence)	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Succinic semialdehyde dehydrogenase deficiency, 271980 Tags
Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, pyridoxine-dependent, 266100 Tags
Green List (high evidence)	ALDOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glycogen storage disease XII, 611881 Tags
Green List (high evidence)	ALDOB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fructose intolerance, 229600 Tags
Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ik, 608540 Tags
Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ig, 607143 Tags
Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Id, 601110 Tags
Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ic, 603147 Tags
Green List (high evidence)	ALG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih, 608104 Tags
Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alstrom syndrome, 203800 Tags
Green List (high evidence)	ALPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypophosphatasia, infantile, 241500 Hypophosphatasia, childhood, 241510 Odontohypophosphatasia, 146300 Hypophosphatasia, adult, 146300 Tags
Green List (high evidence)	ALS2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Amyotrophic lateral sclerosis 2, juvenile, 205100 Primary lateral sclerosis, juvenile, 606353 Spastic paralysis, infantile onset ascending, 607225 Tags
Green List (high evidence)	ALX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Frontonasal dysplasia 3, 613456 Tags
Green List (high evidence)	ALX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Frontonasal dysplasia 1, 136760 Tags
Green List (high evidence)	ALX4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parietal foramina 2, 609597 Frontonasal dysplasia 2, 613451 {Craniosynostosis 5, susceptibility to}, 615529 Tags
Green List (high evidence)	AMER1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteopathia striata with cranial sclerosis, 300373 Tags
Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Spastic paraplegia 63, 615686 Pontocerebellar hypoplasia, type 9, 615809 Tags
Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glycine encephalopathy, 605899 Tags
Green List (high evidence)	ANKH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Craniometaphyseal dysplasia, 123000 Chondrocalcinosis 2, 118600 Tags
Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes KBG syndrome, 148050 Tags
Green List (high evidence)	ANO10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Green List (high evidence)	ANO3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia 24, 615034 Tags
Green List (high evidence)	ANO5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Green List (high evidence)	ANTXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Hemangioma, capillary infantile, susceptibility to}, 602089 GAPO syndrome, 230740 Tags
Green List (high evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked syndromic 5, 304340 Tags
Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 Tags
Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 51, autosomal recessive, 613744 Tags
Green List (high evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 Tags
Green List (high evidence)	AP4S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 52, autosomal recessive, 614067 Tags
Green List (high evidence)	AP5Z1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 48, autosomal recessive, 613647 Tags
Green List (high evidence)	APOPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex IV deficiency Tags new-gene-name
Green List (high evidence)	APTX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Tags
Green List (high evidence)	AR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Androgen insensitivity, 300068 Spinal and bulbar muscular, atrophy of Kennedy, 313200 Androgen insensitivity, partial, with or without breast cancer, 312300 {Prostate cancer, susceptibility to}, 176807 Hypospadias 1, X-linked, 300633 Tags
Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Periventricular heterotopia with microcephaly, 608097 Tags
Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Argininemia, 207800 Tags
Green List (high evidence)	ARHGEF9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 8, 300607 Tags
Green List (high evidence)	ARID1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 14, 614607 Tags
Green List (high evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 12, 614562 Tags
Green List (high evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 3, 600151 {Bardet-Biedl syndrome 1, modifier of}, 209900 ?Retinitis pigmentosa 55, 613575 Tags
Green List (high evidence)	ARMC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 23, 615451 Tags new-gene-name
Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Metachromatic leukodystrophy, 250100 Tags
Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 Tags
Green List (high evidence)	ARSE	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 Tags new-gene-name
Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 1, 308350 Lissencephaly, X-linked 2, 300215 Mental retardation, X-linked 29 and others, 300419 Proud syndrome, 300004 Partington syndrome, 309510 Hydranencephaly with abnormal genitalia, 300215 Tags
Green List (high evidence)	ASAH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Farber lipogranulomatosis, 228000 Spinal muscular atrophy, with progressive myoclonic epilepsy, 159950 Tags
Green List (high evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Argininosuccinic aciduria, 207900 Tags
Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Canavan disease, 271900 Tags
Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 5, primary, autosomal recessive, 608716 Tags
Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Citrullinemia, 215700 Tags
Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bohring-Opitz syndrome, 605039 Myelodysplastic syndrome, somatic, 614286 Tags
Green List (high evidence)	ATAD3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy Tags
Green List (high evidence)	ATCAY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia, cerebellar, Cayman type, 601238 Tags
Green List (high evidence)	ATIC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 Tags
Green List (high evidence)	ATL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 3A, autosomal dominant, 182600 Neuropathy, hereditary sensory, type ID, 613708 Tags
Green List (high evidence)	ATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia-telangiectasia, 208900 Lymphoma, B-cell non-Hodgkin, somatic {Breast cancer, susceptibility to}, 114480 Lymphoma, mantle cell T-cell prolymphocytic leukemia, somatic Tags
Green List (high evidence)	ATN1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dentatorubro-pallidoluysian atrophy, 125370 Tags
Green List (high evidence)	ATP13A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Kufor-Rakeb syndrome, 606693 ?Ceroid lipofuscinosis, neuronal, 12, 606693 Tags
Green List (high evidence)	ATP1A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia-12, 128235 Alternating hemiplegia of childhood 2, 614820 CAPOS syndrome, 601338 Tags
Green List (high evidence)	ATP6AP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Mental retardation, X-linked, syndromic, Hedera type, 300423 ?Parkinsonism with spasticity, X-linked, 300911 Tags
Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Renal tubular acidosis with deafness, 267300 Tags
Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Menkes disease, 309400 Occipital horn syndrome, 304150 Spinal muscular atrophy, distal, X-linked 3, 300489 Tags
Green List (high evidence)	ATP7B	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Wilson disease, 277900 Tags
Green List (high evidence)	ATP8B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, intrahepatic, of pregnancy, 1, 147480 Tags
Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040 Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 Mental retardation-hypotonic facies syndrome, X-linked, 309580 Tags
Green List (high evidence)	ATXN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 1, 164400 Tags
Green List (high evidence)	ATXN10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 10, 603516 Tags
Green List (high evidence)	ATXN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 2, 183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 Tags
Green List (high evidence)	ATXN3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	ATXN7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 7, 164500 Tags
Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-methylglutaconic aciduria, type I, 250950 Tags
Green List (high evidence)	AUTS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 26, 615834 Tags
Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 Ehlers-Danlos syndrome, progeroid type, 2, 615349 Tags
Green List (high evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 Tags
Green List (high evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ehlers-Danlos syndrome, progeroid type, 1, 130070 Tags
Green List (high evidence)	BBS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 10, 615987 Tags
Green List (high evidence)	BBS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 12, 615989 Tags
Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 2, 615981 Tags
Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 4, 615982 Tags
Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 5, 615983 Tags
Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 7, 615984 Tags
Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 9, 615986 Tags
Green List (high evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Deafness, dystonia, and cerebral hypomyelination, 300475 Tags
Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Maple syrup urine disease, type Ia, 248600 Tags
Green List (high evidence)	BCKDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Maple syrup urine disease, type Ib, 248600 Tags
Green List (high evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability Tags
Green List (high evidence)	BCOR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 2, 300166 Tags
Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Tags
Green List (high evidence)	BEAN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 31, 117210 Tags
Green List (high evidence)	BFSP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 12, multiple types, 611597 Tags
Green List (high evidence)	BGN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes X-Linked Spondyloepimetaphyseal Dysplasia Severe syndromic form of thoracic aortic aneurysm & dissection Tags
Green List (high evidence)	BHLHA9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 Tags
Green List (high evidence)	BICD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Tags
Green List (high evidence)	BIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myopathy, centronuclear, autosomal recessive, 255200 Tags
Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bloom syndrome, 210900 Tags
Green List (high evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 6, 607932 Orofacial cleft 11, 600625 Tags
Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Diaphanospondylodysostosis, 608022 Tags
Green List (high evidence)	BMPR1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brachydactyly, type A2, 112600 Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 Tags
Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic, 211980 Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome, 115150 Noonan syndrome 7, 613706 LEOPARD syndrome 3, 613707 Tags
Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 Tags
Green List (high evidence)	BRCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Breast-ovarian cancer, familial, 1}, 604370 {Pancreatic cancer, susceptibility to, 4}, 614320 Tags
Green List (high evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Breast-ovarian cancer, familial, 2}, 612555 Fanconi anemia, complementation group D1, 605724 Prostate cancer, 176807 {Breast cancer, male, susceptibility to}, 114480 Wilms tumor, 194070 {Medulloblastoma}, 155255 {Glioblastoma 3}, 613029 {Pre-B-cell acute lymphoblastic leukemia} Pancreatic cancer, 613347 Tags
Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Breast cancer, early-onset, 114480 Fanconi anemia, complementation group J, 609054 Tags
Green List (high evidence)	BRPF1	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	BRWD3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 93, 300659 Tags
Green List (high evidence)	BSCL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 2, 269700 Silver spastic paraplegia syndrome, 270685 Neuropathy, distal hereditary motor, type VA, 600794 Encephalopathy, progressive, with or without lipodystrophy, 615924 Tags
Green List (high evidence)	BSND	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bartter syndrome, type 4a, 602522 Sensorineural deafness with mild renal dysfunction, 602522 Tags
Green List (high evidence)	BTD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Biotinidase deficiency, 253260 Tags
Green List (high evidence)	BUB1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Colorectal cancer, somatic, 114500 Mosaic variegated aneuploidy syndrome 1, 257300 [Premature chromatid separation trait], 176430 Tags
Green List (high evidence)	C12orf65	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 7, 613559 Spastic paraplegia 55, autosomal recessive, 615035 Tags new-gene-name
Green List (high evidence)	C19orf12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 4, 614298 ?Spastic paraplegia 43, autosomal recessive, 615043 Tags
Green List (high evidence)	C2orf71	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Retinitis pigmentosa 54, 613428 Tags new-gene-name
Green List (high evidence)	C4orf26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Amelogenesis imperfecta type, IIA4, 614832 Tags new-gene-name
Green List (high evidence)	C5orf42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 17, 614615 Orofaciodigital syndrome VI, 277170 Tags new-gene-name
Green List (high evidence)	C8orf37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Retinitis pigmentosa 64, 614500 Cone-rod dystrophy 16, 614500 Tags
Green List (high evidence)	C9orf72	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 Tags
Green List (high evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 Tags
Green List (high evidence)	CA8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Green List (high evidence)	CACNA1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Migraine, familial hemiplegic, 1, 141500 Episodic ataxia, type 2, 108500 Spinocerebellar ataxia 6, 183086 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 Tags
Green List (high evidence)	CACNA1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Timothy syndrome, 601005 Brugada syndrome 3, 611875 Tags
Green List (high evidence)	CACNA1S	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypokalemic periodic paralysis, type 1, 170400 {Malignant hyperthermia susceptibility 5}, 601887 {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 Tags
Green List (high evidence)	CACNB4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 Episodic ataxia, type 5, 613855 Tags
Green List (high evidence)	CAMTA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 Tags
Green List (high evidence)	CASK	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 FG syndrome 4, 300422 Mental retardation, with or without nystagmus, 300422 Tags
Green List (high evidence)	CASR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypocalciuric hypercalcemia, type I, 145980 Hyperparathyroidism, neonatal, 239200 Hypocalcemia, autosomal dominant, 601198 Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 Hypercalciuric hypercalcemia {Calcium, serum level of} Tags
Green List (high evidence)	CBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 Tags
Green List (high evidence)	CBS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200 Thrombosis, hyperhomocysteinemic, 236200 Tags
Green List (high evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal recessive 3, 608443 Tags
Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 9, 612285 Meckel syndrome 6, 612284 COACH syndrome, 216360 Tags
Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 Tags
Green List (high evidence)	CCDC103	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 17, 614679 Tags
Green List (high evidence)	CCDC114	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Green List (high evidence)	CCDC115	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Disorder of Golgi homeostasis Tags new-gene-name
Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 14, 613807 Tags
Green List (high evidence)	CCDC40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 15, 613808 Tags
Green List (high evidence)	CCDC65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 27, 615504 Tags
Green List (high evidence)	CCDC88C	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, 236600 ?Spinocerebellar ataxia 40, 616053 Tags
Green List (high evidence)	CCND2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 Tags
Green List (high evidence)	CCNO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary diskinesia, primary, 29, 615872 Tags
Green List (high evidence)	CCT5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 Tags
Green List (high evidence)	CDC45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meier-Gorlin Syndrome and Craniosynostosis Tags
Green List (high evidence)	CDC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meier-Gorlin syndrome 5, 613805 Tags
Green List (high evidence)	CDH15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 3, 612580 Tags
Green List (high evidence)	CDH23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Usher syndrome, type 1D, 601067 Deafness, autosomal recessive 12, 601386 Usher syndrome, type 1D/F digenic, 601067 Tags
Green List (high evidence)	CDH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Tags
Green List (high evidence)	CDK13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Tags
Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 3, primary, autosomal recessive, 604804 Tags
Green List (high evidence)	CDKL5	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 2, 300672 Angelman syndrome-like, 105830 Tags
Green List (high evidence)	CDKN1C	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Beckwith-Wiedemann syndrome, 130650 IMAGE syndrome, 614732 Tags
Green List (high evidence)	CDON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holoprosencephaly 11, 614226 Tags
Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meier-Gorlin syndrome 4, 613804 Tags
Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 6, primary, autosomal recessive, 608393 Seckel syndrome 4, 613676 Tags
Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes JOUBERT SYNDROME Tags
Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 9, primary, autosomal recessive, 614852 Seckel syndrome 5, 613823 Tags
Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 5, 610188 Senior-Loken syndrome 6, 610189 Leber congenital amaurosis 10, 611755 Meckel syndrome 4, 611134 ?Bardet-Biedl syndrome 14, 615991 Tags
Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 15, 614464 Tags
Green List (high evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mosaic variegated aneuploidy syndrome 2, 614114 Tags
Green List (high evidence)	CHAMP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	CHD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, childhood-onset, 615369 Tags
Green List (high evidence)	CHD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Tags
Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes CHARGE syndrome, 214800 {Scoliosis, idiopathic 3}, 608765 Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 Tags
Green List (high evidence)	CHM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Choroideremia, 303100 Tags
Green List (high evidence)	CHRDL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Megalocornea 1, X-linked 309300 Tags
Green List (high evidence)	CHRNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, nocturnal frontal lobe, type 4, 610353 Tags
Green List (high evidence)	CHRNA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, nocturnal frontal lobe, 1, 600513 {Nicotine addiction, susceptibility to}, 188890 Tags
Green List (high evidence)	CHRNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, nocturnal frontal lobe, 3, 605375 Tags
Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myasthenia gravis, neonatal transient Escobar syndrome, 265000 Multiple pterygium syndrome, lethal type, 253290 Tags
Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 Tags
Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 Tags
Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Temtamy preaxial brachydactyly syndrome, 605282 Tags
Green List (high evidence)	CHUK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cocoon syndrome, 613630 Tags
Green List (high evidence)	CIB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Deafness, autosomal recessive 48, 609439 Usher syndrome, type IJ, 614869 Tags
Green List (high evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Wolfram syndrome 2, 604928 Tags
Green List (high evidence)	CKAP2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	CLCN2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukoencephalopathy with ataxia, 615651 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Leukoencephalopathy with ataxia, 615651 Tags
Green List (high evidence)	CLCN7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 4, 611490 Osteopetrosis, autosomal dominant 2, 166600 Tags
Green List (high evidence)	CLDN19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 Tags
Green List (high evidence)	CLN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 Tags
Green List (high evidence)	CLN6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green List (high evidence)	CLN8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 Tags
Green List (high evidence)	CLPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	CNOT3	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	CNTNAP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042 {Autism susceptibility 15}, 612100 Pitt-Hopkins like syndrome 1, 610042 Tags
Green List (high evidence)	COASY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Tags
Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIg, 611209 Tags
Green List (high evidence)	COG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIj, 613489 Tags
Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIe, 608779 Tags
Green List (high evidence)	COG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIh, 611182 Tags
Green List (high evidence)	COL10A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 Tags
Green List (high evidence)	COL11A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Stickler syndrome, type II, 604841 Marshall syndrome, 154780 {Lumbar disc herniation, susceptibility to}, 603932 Fibrochondrogenesis, 228520 Tags
Green List (high evidence)	COL11A2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Stickler syndrome, type III, 184840 Otospondylomegaepiphyseal dysplasia, 215150 Weissenbacher-Zweymuller syndrome, 277610 Deafness, autosomal dominant 13, 601868 Deafness, autosomal recessive 53, 609706 Fibrochondrogenesis 2, 614524 Tags
Green List (high evidence)	COL18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Knobloch syndrome, type 1, 267750 Tags
Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteogenesis imperfecta, type I, 166200 OI type II, 166210 OI type III, 259420 OI type IV, 166220 Ehlers-Danlos syndrome, type I, 130000 Ehlers-Danlos syndrome, type VIIA, 130060 {Osteoporosis}, 166710 Caffey disease, 114000 [Bone mineral density variation QTL], 166710 Tags
Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Stickler syndrome, type I, 108300 Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Spondyloperipheral dysplasia, 271700 SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, 604864 Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, 151210 Otospondylomegaepiphyseal dysplasia, 215150 Avascular necrosis of the femoral head, 608805 Legg-Calve-Perthes disease, 150600 Stickler sydrome, type I, nonsyndromic ocular, 609508 Czech dysplasia, 609162 Tags
Green List (high evidence)	COL4A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Porencephaly 1, 175780 Brain small vessel disease with or without ocular anomalies, 607595 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 {Hemorrhage, intracerebral, susceptibility to}, 614519 Tags
Green List (high evidence)	COL4A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Porencephaly 2, 614483 {Hemorrhage, intracerebral, susceptibility to}, 614519 Tags
Green List (high evidence)	COL4A3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alport syndrome, autosomal recessive, 203780 Hematuria, benign familial, 141200 Alport syndrome, autosomal dominant, 104200 Tags
Green List (high evidence)	COL4A3BP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability Tags new-gene-name
Green List (high evidence)	COL4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alport syndrome, autosomal recessive, 203780 Hematuria, familial benign Tags
Green List (high evidence)	COL6A1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green List (high evidence)	COL6A3	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green List (high evidence)	COL9A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Epiphyseal dysplasia, multiple, 6, 614135 Stickler syndrome, type IV, 614134 Tags
Green List (high evidence)	COL9A2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epiphyseal dysplasia, multiple, 2, 600204 {Intervertebral disc disease, susceptibility to}, 603932 ?Stickler syndrome, type V, 614284 Tags
Green List (high evidence)	COL9A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epiphyseal dysplasia, multiple, 3, 600969 Epiphyseal dysplasia, multiple, with myopathy {Intervertebral disc disease, susceptibility to}, 603932 Tags
Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3MC syndrome 2, 265050 Tags
Green List (high evidence)	COMP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pseudoachondroplasia, 177170 Epiphyseal dysplasia, multiple 1, 132400 Tags
Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 1, 607426 {Multiple system atrophy, susceptibility to}, 146500 Tags
Green List (high evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 Tags
Green List (high evidence)	COQ9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 5, 614654 Tags
Green List (high evidence)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 Tags
Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome due to cytochrome c oxidase deficiency, 256000 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 Tags
Green List (high evidence)	COX6B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Mitochondrial complex IV deficiency, 220110 Tags
Green List (high evidence)	COX7B	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887 Mitochondrial complex IV deficiency Tags
Green List (high evidence)	CP	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes [Hypoceruloplasminemia, hereditary], 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green List (high evidence)	CPA6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, familial temporal lobe, 5, 614417 Febrile seizures, familial, 11, 614418 Tags
Green List (high evidence)	CPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Carbamoylphosphate synthetase I deficiency, 237300 {Pulmonary hypertension, neonatal, susceptibility to}, 615371 {Venoocclusive disease after bone marrow transplantation} Tags
Green List (high evidence)	CRB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105 Leber congenital amaurosis 8, 613835 Pigmented paravenous chorioretinal atrophy, 172870 Tags
Green List (high evidence)	CRB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rubinstein-Taybi syndrome, 180849 Tags
Green List (high evidence)	CRX	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cone-rod retinal dystrophy-2, 120970 Leber congenital amaurosis 7, 613829 Tags
Green List (high evidence)	CRYAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 9, multiple types, 604219 Tags
Green List (high evidence)	CRYBA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 10, multiple types, 600881 Tags
Green List (high evidence)	CRYBA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 23, 610425 Tags
Green List (high evidence)	CRYBB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 17, multiple types, 611544 Tags
Green List (high evidence)	CRYBB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 3, multiple types, 601547 Tags
Green List (high evidence)	CRYBB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 22, autosomal recessive, 609741 Tags
Green List (high evidence)	CRYGC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 2, multiple types, 604307 Tags
Green List (high evidence)	CRYGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 4, multiple types, 115700 Tags
Green List (high evidence)	CSF1R	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags
Green List (high evidence)	CSNK2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes CSNK2A1 syndrome Tags
Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 21, 615636 Tags
Green List (high evidence)	CSTB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 Tags
Green List (high evidence)	CTC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 Tags
Green List (high evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 21, 615502 Tags
Green List (high evidence)	CTDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 Tags
Green List (high evidence)	CTNNB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 19, 615075 Colorectal cancer, somatic, 114500 Pilomatricoma, somatic, 132600 Ovarian cancer, somatic, 167000 Hepatocellular carcinoma, somatic, 114550 Tags
Green List (high evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cystinosis, nephropathic, 219800 Cystinosis, ocular nonnephropathic, 219750 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 Cystinosis, atypical nephropathic, 219800 Tags
Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Galactosialidosis, 256540 Tags
Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green List (high evidence)	CTSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type Tags
Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pycnodysostosis, 265800 Tags
Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 Tags
Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-M syndrome 1, 273750 Tags
Green List (high evidence)	CYC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green List (high evidence)	CYP1B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 Peters anomaly, 604229 Tags
Green List (high evidence)	CYP27A1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	CYP2U1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Green List (high evidence)	CYP7B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 3, 613812 Spastic paraplegia 5A, autosomal recessive, 270800 Tags
Green List (high evidence)	DAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Green List (high evidence)	DARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new-gene-name
Green List (high evidence)	DARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green List (high evidence)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Maple syrup urine disease, type II, 248600 Tags
Green List (high evidence)	DCC	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Developmental split brain syndrome Tags
Green List (high evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Van Maldergem syndrome 1, 601390 Tags
Green List (high evidence)	DCTN1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuropathy, distal hereditary motor, type VIIB, 607641 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Perry syndrome, 168605 Tags
Green List (high evidence)	DCX	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lissencephaly, X-linked, 300067 Subcortical laminal heteropia, X-linked, 300067 Tags
Green List (high evidence)	DDB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 Tags
Green List (high evidence)	DDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 Tags
Green List (high evidence)	DDHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 Tags
Green List (high evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 Tags
Green List (high evidence)	DDOST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 Tags
Green List (high evidence)	DDR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 Tags
Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Warsaw breakage syndrome, 613398 Tags
Green List (high evidence)	DDX3X	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual diability Tags
Green List (high evidence)	DEAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 24, 615828 Tags
Green List (high evidence)	DEPDC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, familial focal, with variable foci, 604364 Tags
Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Desmosterolosis, 602398 Tags
Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome, 270400 Tags
Green List (high evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Tags
Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Miller syndrome, 263750 Tags
Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Perlman syndrome, 267000 Tags
Green List (high evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyskeratosis congenita, X-linked, 305000 Tags
Green List (high evidence)	DLAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 Tags
Green List (high evidence)	DLD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 Tags
Green List (high evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 90, 300850 Tags
Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 Tags
Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME 6 Tags
Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Duchenne muscular dystrophy, 310200 Becker muscular dystrophy, 300376 Cardiomyopathy, dilated, 3B, 302045 Tags
Green List (high evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypophosphatemic rickets, AR, 241520 Tags
Green List (high evidence)	DMPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myotonic dystrophy 1, 160900 Tags
Green List (high evidence)	DNAAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 2, 606763 Tags
Green List (high evidence)	DNAAF4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Dyslexia, susceptibility to, 1}, 127700 Ciliary dyskinesia, primary, 25, 615482 Tags
Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphenylalaninemia, Dystonia, and Intellectual Disability Tags
Green List (high evidence)	DNM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, dominant intermediate B, 606482 Myopathy, centronuclear, 160150 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 Lethal congenital contracture syndrome 5, 615368 Tags
Green List (high evidence)	DNMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Tags
Green List (high evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tatton-Brown-Rahman syndrome, 615879 Tags
Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 Tags
Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 2, 614113 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 Tags
Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Im, 610768 Tags
Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ij, 608093 Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 Tags
Green List (high evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ie, 608799 Tags
Green List (high evidence)	DRD2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia, myoclonic, 159900 Tags
Green List (high evidence)	DSPP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dentinogenesis imperfecta, Shields type II, 125490 Deafness, autosomal dominant 36, with dentinogenesis, 605594 Dentinogenesis imperfecta, Shields type III, 125500 Dentin dysplasia, type II, 125420 Tags
Green List (high evidence)	DSTYK	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 Tags
Green List (high evidence)	DVL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes AUTOSOMAL-DOMINANT ROBINOW SYNDROME Tags
Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyggve-Melchior-Clausen disease, 223800 Smith-McCort dysplasia, 607326 Tags
Green List (high evidence)	DYNC1H1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 20, 614228 Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 Tags
Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 Tags
Green List (high evidence)	DYRK1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 7, 614104 Tags
Green List (high evidence)	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability, Ataxia, and Facial Dysmorphism Tags
Green List (high evidence)	EBP	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked dominant, 302960 Tags
Green List (high evidence)	ECEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arthrogryposis, distal, type 5D, 615065 Tags
Green List (high evidence)	EDA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 Tooth agenesis, selective, X-linked 1, 313500 Tags
Green List (high evidence)	EDNRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Migraine, resistance to, 157300 Tags
Green List (high evidence)	EDNRB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Hirschsprung disease, susceptibility to, 2}, 600155 ABCD syndrome, 600501 Waardenburg syndrome, type 4A, 277580 Tags
Green List (high evidence)	EFHC1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 Tags
Green List (high evidence)	EFNB1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Craniofrontonasal dysplasia, 304110 Tags
Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 Tags
Green List (high evidence)	EGR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuropathy, congenital hypomyelinating, 1, 605253 Charcot-Marie-Tooth disease, type 1D, 607678 Dejerine-Sottas disease, 145900 Tags
Green List (high evidence)	EHMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Kleefstra syndrome, 610253 Tags
Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Wolcott-Rallison syndrome, 226980 Tags
Green List (high evidence)	EIF4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 Tags
Green List (high evidence)	EIF4G1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 18, 614251 Tags
Green List (high evidence)	ELAC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Prostate cancer, hereditary, 2, susceptibility to}, 614731 Combined oxidative phosphorylation deficiency 17, 615440 Tags
Green List (high evidence)	ELN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Supravalvar aortic stenosis, 185500 Cutis laxa, AD, 123700 Tags
Green List (high evidence)	ELOVL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Stargardt disease 3, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 ?Spinocerebellar ataxia 34, 133190 Tags
Green List (high evidence)	ELOVL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 38, 615957 Tags
Green List (high evidence)	ENPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 {Obesity, susceptibility to}, 601665 Arterial calcification, generalized, of infancy, 1, 208000 Hypophosphatemic rickets, autosomal recessive, 2, 613312 Cole disease, 615522 Tags
Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Adams-Oliver syndrome 4, 615297 Tags
Green List (high evidence)	EP300	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rubinstein-Taybi syndrome 2, 613684 Colorectal cancer, somatic, 114500 Tags
Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Vici syndrome, 242840 Tags
Green List (high evidence)	EPM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), 254780 Tags
Green List (high evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebrooculofacioskeletal syndrome 4, 610758 Tags
Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Xeroderma pigmentosum, group D, 278730 Trichothiodystrophy, 601675 Cerebrooculofacioskeletal syndrome 2, 610756 Tags
Green List (high evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Xeroderma pigmentosum, group B, 610651 Trichothiodystrophy, 601675 Tags
Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Xeroderma pigmentosum, group F, 278760 XFE progeroid syndrome, 610965 Fanconi anemia, complementation group Q, 615272 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Tags
Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Xeroderma pigmentosum, group G, 278780 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 Tags
Green List (high evidence)	ERCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cockayne syndrome, type B, 133540 Cerebrooculofacioskeletal syndrome 1, 214150 De Sanctis-Cacchione syndrome, 278800 {Macular degeneration, age-related, susceptibility to 5}, 613761 UV-sensitive syndrome 1, 600630 {Lung cancer, susceptibility to}, 211980 Tags
Green List (high evidence)	ERCC6L2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cockayne syndrome, type A, 216400 UV-sensitive syndrome 2, 614621 Tags
Green List (high evidence)	ERF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Craniosynostosis 4, 600775 Tags
Green List (high evidence)	ERLIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 18, autosomal recessive, 611225 Tags
Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Roberts syndrome, 268300 SC phocomelia syndrome, 269000 Tags
Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glutaric acidemia IIA, 231680 Tags
Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glutaric acidemia IIB, 231680 Tags
Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glutaric acidemia IIC, 231680 Tags
Green List (high evidence)	ETHE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ethylmalonic encephalopathy, 602473 Tags
Green List (high evidence)	EVC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ellis-van Creveld syndrome, 225500 Weyers acrodental dysostosis, 193530 Tags
Green List (high evidence)	EVC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ellis-van Creveld syndrome, 225500 Tags
Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 1B, 614678 Tags
Green List (high evidence)	EXT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Exostoses, multiple, type 1, 133700 Chondrosarcoma, 215300 Tags
Green List (high evidence)	EXT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Exostoses, multiple, type 2, 133701 Tags
Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuro-immuno-skeletal Dysplasia Syndrome Tags
Green List (high evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Branchiootorenal syndrome 1, with or without cataracts, 113650 Anterior segment anomalies with or without cataract, 113650 Branchiootic syndrome 1, 602588 ?Otofaciocervical syndrome, 166780 Tags
Green List (high evidence)	EZH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Weaver syndrome, 277590 Tags
Green List (high evidence)	FA2H	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 Tags
Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tyrosinemia, type I, 276700 Tags
Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Kenny-Caffey syndrome, type 2, 127000 Gracile bone dysplasia, 602361 Tags
Green List (high evidence)	FAM111B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 Tags
Green List (high evidence)	FAM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 Tags
Green List (high evidence)	FAM161A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Retinitis pigmentosa 28, 606068 Tags
Green List (high evidence)	FAM20A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 Tags
Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Raine syndrome, 259775 Tags
Green List (high evidence)	FAM58A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes STAR syndrome, 300707 Tags new-gene-name
Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group A, 227650 Tags
Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group B, 300514 Tags
Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group C, 227645 Tags
Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group D2, 227646 Tags
Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group E, 600901 Tags
Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group F, 603467 Tags
Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group G, 614082 Tags
Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group I, 609053 Tags
Green List (high evidence)	FAR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Van Maldergem syndrome 2, 615546 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 Tags
Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Marfan syndrome, 154700 Ectopia lentis, familial, 129600 MASS syndrome, 604308 Weill-Marchesani syndrome 2, dominant, 608328 Aortic aneurysm, ascending, and dissection Stiff skin syndrome, 184900 Acromicric dysplasia, 102370 Geleophysic dysplasia 2, 614185 Tags
Green List (high evidence)	FBN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Contractural arachnodactyly, congenital, 121050 Macular degeneration, early-onset, 616118 Tags
Green List (high evidence)	FBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 Tags
Green List (high evidence)	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 Tags
Green List (high evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 15, autosomal recessive, 260300 Tags
Green List (high evidence)	FGD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aarskog-Scott syndrome, 305400 Mental retardation, X-linked syndromic 16, 305400 Tags
Green List (high evidence)	FGD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 Tags
Green List (high evidence)	FGF10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aplasia of lacrimal and salivary glands, 180920 LADD syndrome, 149730 Tags
Green List (high evidence)	FGF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green List (high evidence)	FGF14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 27, 609307 Tags
Green List (high evidence)	FGF3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 Tags
Green List (high evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pfeiffer syndrome, 101600 Jackson-Weiss syndrome, 123150 Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 Osteoglophonic dysplasia, 166250 Trigonocephaly 1, 190440 Hartsfield syndrome, 615465 Tags
Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Crouzon syndrome, 123500 Jackson-Weiss syndrome, 123150 Beare-Stevenson cutis gyrata syndrome, 123790 Pfeiffer syndrome, 101600 Apert syndrome, 101200 Saethre-Chotzen syndrome, 101400 Craniosynostosis, nonspecific Gastric cancer, somatic, 613659 Craniofacial-skeletal-dermatologic dysplasia, 101600 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 Scaphocephaly and Axenfeld-Rieger anomaly LADD syndrome, 149730 Scaphocephaly, maxillary retrusion, and mental retardation, 609579 Bent bone dysplasia syndrome, 614592 Tags
Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Achondroplasia, 100800 Hypochondroplasia, 146000 Thanatophoric dysplasia, type I, 187600 Crouzon syndrome with acanthosis nigricans, 612247 Muenke syndrome, 602849 Bladder cancer, somatic, 109800 Colorectal cancer, somatic, 114500 Cervical cancer, somatic, 603956 LADD syndrome, 149730 CATSHL syndrome, 610474 Nevus, epidermal, somatic, 162900 Thanatophoric dysplasia, type II, 187601 Spermatocytic seminoma, somatic, 273300 Tags
Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fumarase deficiency, 606812 Leiomyomatosis and renal cell cancer, 150800 Tags
Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Scapuloperoneal myopathy, X-linked dominant, 300695 Myopathy, X-linked, with postural muscle atrophy, 300696 Myopathy, reducing body, X-linked, severe early-onset, 300717 Myopathy, reducing body, X-linked, childhood-onset, 300718 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 Tags
Green List (high evidence)	FIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4J, 611228 Amyotrophic lateral sclerosis 11, 612577 Yunis-Varon syndrome, 216340 ?Polymicrogyria, bilateral temporooccipital, 612691 Tags
Green List (high evidence)	FKBP14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 Tags
Green List (high evidence)	FKRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 Tags
Green List (high evidence)	FKTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 Cardiomyopathy, dilated, 1X, 611615 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Tags
Green List (high evidence)	FLAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Tags
Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Heterotopia, periventricular, 300049 Otopalatodigital syndrome, type I, 311300 Otopalatodigital syndrome, type II, 304120 Intestinal pseudoobstruction, neuronal, 300048 Melnick-Needles syndrome, 309350 Frontometaphyseal dysplasia, 305620 Heterotopia, periventricular, ED variant, 300537 FG syndrome 2, 300321 Cardiac valvular dysplasia, X-linked, 314400 Terminal osseous dysplasia, 300244 Congenital short bowel syndrome, 300048 Tags
Green List (high evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 Larsen syndrome, 150250 Atelosteogenesis, type I, 108720 Atelosteogenesis, type III, 108721 Boomerang dysplasia, 112310 Tags
Green List (high evidence)	FLT4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lymphedema, hereditary, IA, 153100 Hemangioma, capillary infantile, somatic, 602089 Tags
Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Tags
Green List (high evidence)	FLVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 Tags
Green List (high evidence)	FMR1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fragile X syndrome, 300624 Fragile X tremor/ataxia syndrome, 300623 Premature ovarian failure 1, 311360 Tags
Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Tags
Green List (high evidence)	FOXC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Iridogoniodysgenesis, type 1, 601631 Rieger or Axenfeld anomalies, 602482 Axenfeld-Rieger syndrome, type 3, 602482 Iris hypoplasia and glaucoma, 601631 Tags
Green List (high evidence)	FOXC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lymphedema-distichiasis syndrome, 153400 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Tags
Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bamforth-Lazarus syndrome, 241850 Tags
Green List (high evidence)	FOXE3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Aphakia, congenital primary, 610256 Tags
Green List (high evidence)	FOXF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 Tags
Green List (high evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rett syndrome, congenital variant, 613454 Tags
Green List (high evidence)	FOXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 Tags
Green List (high evidence)	FOXP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation with language impairment and autistic features, 613670 Tags
Green List (high evidence)	FOXP3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 {Diabetes mellitus, type I, susceptibility to}, 222100 Tags
Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial complex I deficiency, 252010 Tags
Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fraser syndrome, 219000 Tags
Green List (high evidence)	FREM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 Manitoba oculotrichoanal syndrome, 248450 Trigonocephaly 2, 614485 Tags
Green List (high evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fraser syndrome, 219000 Tags
Green List (high evidence)	FRMD7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nystagmus 1, congenital, X-linked, 310700 Nystagmus, infantile periodic alternating, X-linked, 310700 Tags
Green List (high evidence)	FTCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glutamate formiminotransferase deficiency, 229100 Tags
Green List (high evidence)	FTL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperferritinemia-cataract syndrome, 600886 Neurodegeneration with brain iron accumulation 3, 606159 L-ferritin deficiency, dominant and recessive, 615604 Tags
Green List (high evidence)	FTSJ1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 9, 309549 Tags
Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fucosidosis, 230000 Tags
Green List (high evidence)	FXN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Friedreich ataxia, 229300 Friedreich ataxia with retained reflexes, 229300 Tags
Green List (high evidence)	FYCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 18, autosomal recessive, 610019 Tags
Green List (high evidence)	FZD6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 Tags
Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glycogen storage disease II, 232300 Tags
Green List (high evidence)	GABRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 {Epilepsy, childhood absence, susceptibility to, 4}, 611136 Epileptic encephalopathy, early infantile, 19, 615744 Tags
Green List (high evidence)	GABRB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Epilepsy, childhood absence, susceptibility to, 5}, 612269 Tags
Green List (high evidence)	GABRG2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3, 611277 {Epilepsy, childhood absence, susceptibility to, 2}, 607681 Febrile seizures, familial, 8, 611277 Tags
Green List (high evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebral palsy, spastic quadriplegic, 1, 603513 Tags
Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Krabbe disease, 245200 Tags
Green List (high evidence)	GALE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Galactose epimerase deficiency, 230350 Tags
Green List (high evidence)	GALK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis IVA, 253000 Tags
Green List (high evidence)	GALT	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Galactosemia, 230400 Tags
Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 2, 612736 Tags
Green List (high evidence)	GAS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green List (high evidence)	GATA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Immunodeficiency 21, 614172 Emberger syndrome, 614038 {Myelodysplastic syndrome, susceptibility to}, 614286 {Leukemia, acute myeloid, susceptibility to}, 601626 Tags
Green List (high evidence)	GATA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Atrial septal defect 2, 607941 Ventricular septal defect 1, 614429 Atrioventricular septal defect 4, 614430 ?Testicular anomalies with or without congenital heart disease, 615542 Tetralogy of Fallot, 187500 Tags
Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Atrioventricular septal defect 5, 614474 Atrial septal defect 9, 614475 Pancreatic agenesis and congenital heart defects, 600001 Persistent truncus arteriosus, 217095 Tetralogy of Fallot, 187500 Tags
Green List (high evidence)	GATAD2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 18, 615074 Tags
Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 3, 612718 Tags
Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 Gaucher disease, perinatal lethal, 608013 {Parkinson disease, late-onset, susceptibility to}, 168600 {Lewy body dementia, susceptibility to}, 127750 Tags
Green List (high evidence)	GBA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glutaricaciduria, type I, 231670 Tags
Green List (high evidence)	GCH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Hyperphenylalaninemia, BH4-deficient, B, 233910 Tags
Green List (high evidence)	GDAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4A, 214400 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 Tags
Green List (high evidence)	GDF5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Acromesomelic dysplasia, Hunter-Thompson type, 201250 Brachydactyly, type C, 113100 Chondrodysplasia, Grebe type, 200700 Du Pan syndrome, 228900 Brachydactyly, type A2, 112600 Symphalangism, proximal, 1B, 615298 Multiple synostoses syndrome 2, 610017 {Osteoarthritis-5}, 612400 Brachydactyly, type A1, C, 615072 Tags
Green List (high evidence)	GDF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100 Microphthalmia, isolated 4, 613094 Microphthalmia with coloboma 6, digenic, 613703 Leber congenital amaurosis 17, 615360 Tags
Green List (high evidence)	GDI1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 41, 300849 Tags
Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alexander disease, 203450 Tags
Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Tags
Green List (high evidence)	GHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Laron dwarfism, 262500 Short stature, 604271 {Hypercholesterolemia, familial, modifier of}, 143890 Increased responsiveness to growth hormone Tags
Green List (high evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Oculodentodigital dysplasia, 164200 Syndactyly, type III, 186100 Hypoplastic left heart syndrome 1, 241550 Atrioventricular septal defect 3, 600309 Oculodentodigital dysplasia, autosomal recessive, 257850 Craniometaphyseal dysplasia, autosomal recessive, 218400 Tags
Green List (high evidence)	GJA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 14, multiple types, 601885 Tags
Green List (high evidence)	GJA8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 1, multiple types, 116200 Tags
Green List (high evidence)	GJB1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Tags
Green List (high evidence)	GJB2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Deafness, autosomal recessive 1A, 220290 Deafness, autosomal dominant 3A, 601544 Vohwinkel syndrome, 124500 Keratoderma, palmoplantar, with deafness, 148350 Keratitis-ichthyosis-deafness syndrome, 148210 Hystrix-like ichthyosis with deafness, 602540 Bart-Pumphrey syndrome, 149200 Tags
Green List (high evidence)	GJB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Erythrokeratodermia variabilis et progressiva, 133200 Deafness, autosomal dominant 2B, 612644 Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness, digenic, GJB2/GJB3, 220290 Tags
Green List (high evidence)	GJC2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 2, 608804 Spastic paraplegia 44, autosomal recessive, 613206 Lymphedema, hereditary, IC, 613480 Tags
Green List (high evidence)	GK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glycerol kinase deficiency, 307030 Tags
Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes GM1-gangliosidosis, type I, 230500 GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010 Tags
Green List (high evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glycine encephalopathy, 605899 Tags
Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lethal congenital contracture syndrome 1, 253310 Arthrogryposis, lethal, with anterior horn cell disease, 611890 Tags
Green List (high evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holoprosencephaly-9, 610829 Culler-Jones syndrome, 615849 Tags
Green List (high evidence)	GLI3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Greig cephalopolysyndactyly syndrome, 175700 Pallister-Hall syndrome, 146510 Polydactyly, preaxial, type IV, 174700 Polydactyly, postaxial, types A1 and B, 174200 {Hypothalamic hamartomas, somatic}, 241800 Tags
Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 Tags
Green List (high evidence)	GLMN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glomuvenous malformations, 138000 Tags
Green List (high evidence)	GLUD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green List (high evidence)	GLUL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glutamine deficiency, congenital, 610015 Tags
Green List (high evidence)	GM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes GM2-gangliosidosis, AB variant, 272750 Tags
Green List (high evidence)	GMPPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 Tags
Green List (high evidence)	GMPPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 Tags
Green List (high evidence)	GNAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes GNAI1 syndrome Tags
Green List (high evidence)	GNAI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Auriculocondylar syndrome 1, 602483 Tags
Green List (high evidence)	GNAL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia 25, 615073 Tags
Green List (high evidence)	GNAO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 17, 615473 Tags
Green List (high evidence)	GNAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pseudohypoparathyroidism Ia, 103580 McCune-Albright syndrome, somatic, mosaic, 174800 Pseudohypoparathyroidism Ic, 612462 Osseous heteroplasia, progressive, 166350 Pseudohypoparathyroidism Ib, 603233 Acromegaly, somatic, 102200 Pseudopseudohypoparathyroidism, 612463 ACTH-independent macronodular adrenal hyperplasia, 219080 Tags
Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Severe Neurodevelopmental Disability, Hypotonia, and Seizures Tags
Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 Tags
Green List (high evidence)	GNPTAB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucolipidosis III alpha/beta, 252600 Mucolipidosis II alpha/beta, 252500 Tags
Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucolipidosis III gamma, 252605 Tags
Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis type IIID, 252940 Tags
Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Geroderma osteodysplasticum Tags
Green List (high evidence)	GOSR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 Wilms tumor, somatic, 194070 Tags
Green List (high evidence)	GPR179	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Tags
Green List (high evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Chudley-McCullough syndrome, 604213 Tags
Green List (high evidence)	GRHL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Van der Woude syndrome 2, 606713 Tags
Green List (high evidence)	GRIA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 94, 300699 Tags
Green List (high evidence)	GRID2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, atuosomal recessive 18, 616204 Tags
Green List (high evidence)	GRIK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal recessive, 6, 611092 Tags
Green List (high evidence)	GRIN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 8, 614254 Tags
Green List (high evidence)	GRIN2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 Tags
Green List (high evidence)	GRIN2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 6, 613970 Epileptic encephalopathy, early infantile, 27, 616139 Tags
Green List (high evidence)	GRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 13, 614831 Tags
Green List (high evidence)	GRM6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Tags
Green List (high evidence)	GRN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 Aphasia, primary progressive, 607485 Ceroid lipofuscinosis, neuronal, 11, 614706 Tags
Green List (high evidence)	GTF2H5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Trichothiodystrophy, complementation group A, 601675 Tags
Green List (high evidence)	GTPBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	GUCY2C	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Diarrhea 6, 614616 Meconium ileus, 614665 Tags
Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis VII, 253220 Tags
Green List (high evidence)	HACE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes HACE1 related disorder Tags
Green List (high evidence)	HADH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Hyperinsulinemic hypoglycemia, familial, 4, 609975 Tags
Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes LCHAD deficiency, 609016 Trifunctional protein deficiency, 609015 HELLP syndrome, maternal, of pregnancy, 609016 Fatty liver, acute, of pregnancy, 609016 Tags
Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags
Green List (high evidence)	HCCS	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 7, 309801 Tags
Green List (high evidence)	HCFC1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 Tags
Green List (high evidence)	HCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 24, 615871 Tags
Green List (high evidence)	HDAC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brachydactyly-mental retardation syndrome, 600430 Tags
Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Wilson-Turner syndrome, 309585 Cornelia de Lange syndrome 5, 300882 Tags
Green List (high evidence)	HECW2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes HECW2 Tags
Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tay-Sachs disease, 272800 GM2-gangliosidosis, several forms, 272800 [Hex A pseudodeficiency], 272800 Tags
Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Tags
Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Tags
Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 Tags
Green List (high evidence)	HINT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 Tags
Green List (high evidence)	HIVEP2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes NA Tags
Green List (high evidence)	HK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hemolytic anemia due to hexokinase deficiency, 235700 Neuropathy, hereditary motor and sensory, Russe type, 605285 Tags
Green List (high evidence)	HLCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holocarboxylase synthetase deficiency, 253270 Tags
Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes HMG-CoA lyase deficiency, 246450 Tags
Green List (high evidence)	HMGCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes HMG-CoA synthase-2 deficiency, 605911 Tags
Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Renal cysts and diabetes syndrome, 137920 Diabetes mellitus, noninsulin-dependent, 125853 {Renal cell carcinoma}, 144700 Tags
Green List (high evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes MODY, type I, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 Tags
Green List (high evidence)	HNRNPU	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	HOXA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bosley-Salih-Alorainy syndrome, 601536 Athabaskan brainstem dysgenesis syndrome, 601536 Tags
Green List (high evidence)	HOXA13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hand-foot-uterus syndrome, 140000 Guttmacher syndrome, 176305 Tags
Green List (high evidence)	HOXC13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 Tags
Green List (high evidence)	HOXD13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Synpolydactyly, type II, 186000 Brachydactyly, type E, 113300 Brachydactyly, type D, 113200 Synpolydactyly with foot anomalies, 186000 Syndactyly, type V, 186300 Brachydactyly-syndactyly syndrome, 610713 ?VACTERL association, 192350 Tags
Green List (high evidence)	HPGD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cranioosteoarthropathy, 259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 Digital clubbing, isolated congenital, 119900 Tags
Green List (high evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lesch-Nyhan syndrome, 300322 HPRT-related gout, 300323 Tags
Green List (high evidence)	HPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 1, 203300 Tags
Green List (high evidence)	HPSE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Urofacial syndrome 1, 236730 Tags
Green List (high evidence)	HR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alopecia universalis, 203655 Atrichia with papular lesions, 209500 Hypotrichosis 4, 146550 Tags
Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Bladder cancer, somatic}, 109800 Costello syndrome, 218040 {Thyroid carcinoma, follicular, somatic}, 188470 Congenital myopathy with excess of muscle spindles, 218040 {Nevus sebaceous, somatic}, 162900 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Tags
Green List (high evidence)	HSD17B10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 ?Mental retardation, X-linked syndromic 10, 300220 Tags
Green List (high evidence)	HSD17B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes D-bifunctional protein deficiency, 261515 Perrault syndrome 1, 233400 Tags
Green List (high evidence)	HSD3B7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 1, 607765 Tags
Green List (high evidence)	HSF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 5, multiple types, 116800 Tags
Green List (high evidence)	HSPD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233 Tags
Green List (high evidence)	HSPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Schwartz-Jampel syndrome, type 1, 255800 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 Tags
Green List (high evidence)	HTT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Huntington disease, 143100 Tags
Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 Tags
Green List (high evidence)	HYAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis type IX, 601492 Tags
Green List (high evidence)	HYDIN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 5 CILD5 Tags
Green List (high evidence)	HYLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hydrolethalus syndrome, 236680 Tags
Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis II, 309900 Tags
Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis Ih/s, 607015 Tags
Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 Tags
Green List (high evidence)	IFIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 7, 615846 Tags
Green List (high evidence)	IFITM5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteogenesis imperfecta, type V, 610967 Tags
Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cranioectodermal dysplasia 1, 218330 Tags
Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Tags
Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 Tags
Green List (high evidence)	IFT43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cranioectodermal dysplasia 3, 614099 Tags
Green List (high evidence)	IFT80	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	IGF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 Tags
Green List (high evidence)	IGF1R	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Insulin-like growth factor I, resistance to, 270450 Tags
Green List (high evidence)	IGF2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Beckwith-Wiedemann Syndrome Chromosome 11p15.5-Related Russell-Silver Syndrome Tags
Green List (high evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 Tags
Green List (high evidence)	IGSF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypothyroidism, central, and testicular enlargement, 300888 Tags
Green List (high evidence)	IHH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Acrocapitofemoral dysplasia, 607778 Brachydactyly, type A1, 112500 Tags
Green List (high evidence)	IKBKG	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Incontinentia pigmenti, type II, 308300 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 Immunodeficiency, isolated, 300584 Immunodeficiency 33, 300636 Invasive pneumococcal disease, recurrent isolated, 2, 300640 Tags
Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Crouzon-like craniosynostosis Autosomal Recessive Craniosynostosis Tags
Green List (high evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 21/34, 300143 Tags
Green List (high evidence)	IMPAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Chondrodysplasia with joint dislocations, GRAPP type, 614078 Tags
Green List (high evidence)	INPP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Joubert syndrome 1, 213300 Tags
Green List (high evidence)	INPP5K	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy Tags
Green List (high evidence)	INPPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Opsismodysplasia, 258480 Tags
Green List (high evidence)	IQSEC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 1, 309530 Tags
Green List (high evidence)	IRF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes van der Woude syndrome, 119300 Popliteal pterygium syndrome 1, 119500 Orofacial cleft 6, 608864 Tags
Green List (high evidence)	ISPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags new-gene-name
Green List (high evidence)	ITGA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 Tags
Green List (high evidence)	ITGA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 Tags
Green List (high evidence)	ITPR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 15, 606658 Spinocerebellar ataxia 29, congenital nonprogressive, 117360 Tags
Green List (high evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Isovaleric acidemia, 243500 Tags
Green List (high evidence)	JAG1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alagille syndrome, 118450 Tetralogy of Fallot, 187500 Deafness, congenital heart defects, and posterior embryotoxon Tags
Green List (high evidence)	JAGN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	JAK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 Tags
Green List (high evidence)	KANSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Koolen-De Vries syndrome, 610443 Tags
Green List (high evidence)	KARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
Green List (high evidence)	KAT6A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes SBBYSS syndrome, 603736 Genitopatellar syndrome, 606170 Tags
Green List (high evidence)	KBTBD13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nemaline myopathy 6, autosomal dominant, 609273 Tags
Green List (high evidence)	KCNA1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Episodic ataxia/myokymia syndrome, 160120 Tags
Green List (high evidence)	KCNA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	KCNB1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 26, 616056 Tags
Green List (high evidence)	KCNC1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 7, 616187 Tags
Green List (high evidence)	KCNC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 13, 605259 Tags
Green List (high evidence)	KCND3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 19, 607346 Tags
Green List (high evidence)	KCNE1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes SESAME syndrome, 612780 Enlarged vestibular aqueduct, digenic, 600791 Tags
Green List (high evidence)	KCNJ11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 Diabetes, permanent neonatal, 606176 Diabetes mellitus, permanent neonatal, with neurologic features, 606176 {Diabetes mellitus, type 2, susceptibility to}, 125853 Diabetes mellitus, transient neonatal, 3, 610582 Tags
Green List (high evidence)	KCNQ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Long QT syndrome 1, 192500 Jervell and Lange-Nielsen syndrome, 220400 Atrial fibrillation, familial, 3, 607554 Short QT syndrome 2, 609621 {Long QT syndrome 1, acquired, susceptibility to}, 192500 Tags
Green List (high evidence)	KCNQ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Seizures, benign neonatal, 1, 121200 Myokymia, 121200 Epileptic encephalopathy, early infantile, 7, 613720 Tags
Green List (high evidence)	KCNQ3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Seizures, benign neonatal, type 2, 121201 Tags
Green List (high evidence)	KCNT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 14, 614959 Epilepsy, nocturnal frontal lobe, 5, 615005 Tags
Green List (high evidence)	KCTD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Scalp-ear-nipple syndrome, 181270 Tags
Green List (high evidence)	KCTD7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 Tags
Green List (high evidence)	KDM5B	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 Tags
Green List (high evidence)	KDM6A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Kabuki syndrome 2, 300867 Tags
Green List (high evidence)	KIAA0586	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes JOUBERT SYNDROME Tags
Green List (high evidence)	KIF11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 Tags
Green List (high evidence)	KIF1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 30, autosomal recessive, 610357 Neuropathy, hereditary sensory, type IIC, 614213 Mental retardation, autosomal dominant 9, 614255 Tags
Green List (high evidence)	KIF1BP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 Tags new-gene-name
Green List (high evidence)	KIF1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic ataxia 2, autosomal recessive, 611302 Tags
Green List (high evidence)	KIF22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 Tags
Green List (high evidence)	KIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 10, autosomal dominant, 604187 Tags
Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hydrolethalus syndrome 2, 614120 Acrocallosal syndrome, 200990 Joubert syndrome 12, 200990 Tags
Green List (high evidence)	KIRREL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 4, 612581 Tags
Green List (high evidence)	KIT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Piebaldism, 172800 Gastrointestinal stromal tumor, familial, 606764 Mast cell disease, 154800 Leukemia, acute myeloid, 601626 Germ cell tumors, 273300 Tags
Green List (high evidence)	KLF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Blood group-Lutheran inhibitor, 111150 [Hereditary persistence of fetal hemoglobin], 613566 Dyserythropoietic anemia, congenital, type IV, 613673 Tags
Green List (high evidence)	KLHL40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 Tags
Green List (high evidence)	KMT2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Wiedemann-Steiner syndrome, 605130 Leukemia, myeloid/lymphoid or mixed-lineage Tags
Green List (high evidence)	KMT2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia Tags
Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Kabuki syndrome 1, 147920 Tags
Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 4, primary, autosomal recessive, 604321 Tags
Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lung cancer, somatic, 211980 Bladder cancer, somatic, 109800 Pancreatic carcinoma, somatic, 260350 Gastric cancer, somatic, 137215 Leukemia, acute myelogenous Noonan syndrome 3, 609942 Cardiofaciocutaneous syndrome 2, 615278 Breast cancer, somatic, 114480 SFM syndrome, somatic mosaic, 163200 Tags
Green List (high evidence)	KRIT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebral cavernous malformations-1, 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Cavernous malformations of CNS and retina, 116860 Tags
Green List (high evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hydrocephalus due to aqueductal stenosis, 307000 MASA syndrome, 303350 CRASH syndrome, 303350 Hydrocephalus with Hirschsprung disease, 307000 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 Corpus callosum, partial agenesis of, 304100 Tags
Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Poretti-Boltshauser syndrome, 615960 Tags
Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy, congenital merosin-deficient, 607855 Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 Tags
Green List (high evidence)	LAMC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cortical malformations, occipital, 614115 Tags
Green List (high evidence)	LAMP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Danon disease, 300257 Tags
Green List (high evidence)	LARGE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 Tags
Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alazami syndrome, 615071 Tags
Green List (high evidence)	LBR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pelger-Huet anomaly, 169400 Greenberg skeletal dysplasia, 215140 ?Reynolds syndrome, 613471 Tags
Green List (high evidence)	LDB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myopathy, myofibrillar, 4, 609452 Cardiomyopathy, dilated 1C, 601493 Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 Tags
Green List (high evidence)	LEMD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteopoikilosis, 166700 Buschke-Ollendorff syndrome, 166700 Melorheostosis with osteopoikilosis, 155950 Tags
Green List (high evidence)	LFNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Spondylocostal dysostosis 3, autosomal recessive, 609813 Tags
Green List (high evidence)	LGI1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, familial temporal lobe, 1, 600512 Tags
Green List (high evidence)	LGI4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arthrogryposis Multiplex Congenita Tags
Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 3, 221750 Tags
Green List (high evidence)	LHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 4, 262700 Tags
Green List (high evidence)	LIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes LIG4 syndrome, 606593 {Multiple myeloma, resistance to}, 254500 Tags
Green List (high evidence)	LITAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 Tags
Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Green List (high evidence)	LMNA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350 Cardiomyopathy, dilated, 1A, 115200 Lipodystrophy, familial partial, 2, 151660 Emery-Dreifuss muscular dystrophy 3, AR, 181350 Charcot-Marie-Tooth disease, type 2B1, 605588 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb-girdle, type 1B, 159001 Mandibuloacral dysplasia, 248370 Hutchinson-Gilford progeria, 176670 Restrictive dermopathy, lethal, 275210 Heart-hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112 Tags
Green List (high evidence)	LMX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nail-patella syndrome, 161200 Tags
Green List (high evidence)	LOXHD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Deafness, autosomal recessive 77, 613079 Tags
Green List (high evidence)	LRP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Donnai-Barrow syndrome, 222448 Tags
Green List (high evidence)	LRP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cenani-Lenz syndactyly syndrome, 212780 Sclerosteosis 2, 614305 Tags
Green List (high evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteoporosis-pseudoglioma syndrome, 259770 [Bone mineral density variability 1], 601884 Hyperostosis, endosteal, 144750 van Buchem disease, type 2, 607636 Osteosclerosis, 144750 {Osteoporosis}, 166710 Exudative vitreoretinopathy 4, 601813 Osteopetrosis, autosomal dominant 1, 607634 Tags
Green List (high evidence)	LRPPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome, French-Canadian type, 220111 Tags
Green List (high evidence)	LRRC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 19, 614935 Tags
Green List (high evidence)	LRRK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 8, 607060 Tags
Green List (high evidence)	LTBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glaucoma 3, primary congenital, D, 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 Weill-Marchesani syndrome 3, recessive, 614819 Tags
Green List (high evidence)	LTBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tooth agenesis, selective, 6, 613097 Tags
Green List (high evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Chediak-Higashi syndrome, 214500 Tags
Green List (high evidence)	MAB21L2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 14, 615877 Tags
Green List (high evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cataract 21, multiple types, 610202 Tags
Green List (high evidence)	MAFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Multicentric carpotarsal osteolysis syndrome, 166300 Tags
Green List (high evidence)	MAGEL2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Prader-Willi-like syndrome, 615547 Tags
Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II, 248500 Tags
Green List (high evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mannosidosis, beta, 248510 Tags
Green List (high evidence)	MAOA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brunner syndrome, 300615 Tags
Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 3, 615279 Tags
Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 4, 615280 Tags
Green List (high evidence)	MAP3K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 46XY sex reversal 6, 613762 Tags
Green List (high evidence)	MAPRE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Circumferential Skin Creases Kunze Type Tags
Green List (high evidence)	MAPT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 {Parkinson disease, susceptibility to}, 168600 Tags
Green List (high evidence)	MARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic ataxia 3, autosomal recessive, 611390 Tags
Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3MC syndrome 1, 257920 Tags
Green List (high evidence)	MATN3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epiphyseal dysplasia, multiple, 5, 607078 {Osteoarthritis susceptibility 2}, 140600 Spondyloepimetaphyseal dysplasia, 608728 Tags
Green List (high evidence)	MC2R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 Tags
Green List (high evidence)	MCCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 Tags
Green List (high evidence)	MCCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 Tags
Green List (high evidence)	MCEE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 Tags
Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucolipidosis IV, 252650 Tags
Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 1, primary, autosomal recessive, 251200 Tags
Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Early-Onset Severe Encephalopathy Tags
Green List (high evidence)	MECP2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rett syndrome, 312750 Mental retardation, X-linked, syndromic 13, 300055 Rett syndrome, preserved speech variant, 312750 Encephalopathy, neonatal severe, 300673 {Autism susceptibility, X-linked 3}, 300496 Angelman syndrome, 105830 Mental retardation, X-linked syndromic, Lubs type, 300260 Tags
Green List (high evidence)	MECR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Childhood-Onset Dystonia and Optic Atrophy Tags
Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 Tags
Green List (high evidence)	MED17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 Tags
Green List (high evidence)	MEF2C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 Chromosome 5q14.3 deletion syndrome, 613443 Tags
Green List (high evidence)	MEGF10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 Tags
Green List (high evidence)	MEGF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Carpenter syndrome 2, 614976 Tags
Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 Tags
Green List (high evidence)	MFRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	MFSD2A	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	MFSD8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951 Macular dystrophy with central cone involvement, 616170 Tags
Green List (high evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIa, 212066 Tags
Green List (high evidence)	MGP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Keutel syndrome, 245150 Tags
Green List (high evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green List (high evidence)	MID1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Opitz GBBB syndrome, type I, 300000 Tags
Green List (high evidence)	MITF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Waardenburg syndrome, type 2A, 193510 Waardenburg syndrome/ocular albinism, digenic, 103470 Tietz albinism-deafness syndrome, 103500 {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 Tags
Green List (high evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes McKusick-Kaufman syndrome, 236700 Bardet-Biedl syndrome 6, 605231 Tags
Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meckel syndrome 1, 249000 Bardet-Biedl syndrome 13, 615990 Tags
Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 Tags
Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 Tags
Green List (high evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 Tags
Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 Tags
Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green List (high evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Homocystinuria, cblD type, variant 1, 277410 Methylmalonic aciduria, cblD type, variant 2, 277410 Methylmalonic aciduria and homocystinuria, cblD type, 277410 Tags
Green List (high evidence)	MMP13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111 Metaphyseal anadysplasia 1, 602111 Tags
Green List (high evidence)	MMP21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes MMP21-associated heterotaxy Tags
Green List (high evidence)	MNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Currarino syndrome, 176450 Tags
Green List (high evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Molybdenum cofactor deficiency A, 252150 Tags
Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Molybdenum cofactor deficiency B, 252160 Tags
Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type If, 609180 Tags
Green List (high evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ib, 602579 Tags
Green List (high evidence)	MPLKIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Trichothiodystrophy, nonphotosensitive 1, 234050 Tags
Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Green List (high evidence)	MPZ	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 1B, 118200 Dejerine-Sottas disease, 145900 Neuropathy, congenital hypomyelinating, 605253 Charcot-Marie-Tooth disease, type 2J, 607736 Roussy-Levy syndrome, 180800 Charcot-Marie-Tooth disease, type 2I, 607677 Charcot-Marie-Tooth disease, dominant intermediate D, 607791 Tags
Green List (high evidence)	MRE11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia-telangiectasia-like disorder, 604391 Tags
Green List (high evidence)	MSL3	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	MSX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 Orofacial cleft 5, 608874 Ectodermal dysplasia 3, Witkop type, 189500 Tags
Green List (high evidence)	MSX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Craniosynostosis, type 2, 604757 Parietal foramina 1, 168500 Parietal foramina with cleidocranial dysplasia, 168550 Tags
Green List (high evidence)	MT-ATP6	2 reviews 1 green	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	MT-ND1	1 review 1 green	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes LEBER OPTIC ATROPHY ALZHEIMER DISEASE SIDS MITOCHONDRIAL COMPLEX I DEFICIENCY DYSTONIA, ADULT-ONSET MELAS Tags
Green List (high evidence)	MT-ND4	1 review 1 green	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes LEBER OPTIC ATROPHY MELAS SYNDROME LEBER OPTIC ATROPHY AND DYSTONIA MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green List (high evidence)	MT-TK	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Homocystinuria due to MTHFR deficiency, 236250 {Schizophrenia, susceptibility to}, 181500 {Vascular disease, susceptibility to} {Neural tube defects, susceptibility to}, 601634 {Thromboembolism, susceptibility to}, 188050 Tags
Green List (high evidence)	MTM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Green List (high evidence)	MTMR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 Tags
Green List (high evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Tags
Green List (high evidence)	MTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hemimegalencephaly MTOR Epileptic encephalopathy Tags
Green List (high evidence)	MTPAP	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia, spastic, 4, 613672 Tags
Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 Tags
Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 Tags
Green List (high evidence)	MTTP	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Abetalipoproteinemia, 200100 {Metabolic syndrome, protection against}, 605552 Tags
Green List (high evidence)	MUT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Methylmalonic aciduria, mut(0) type, 251000 Tags new-gene-name
Green List (high evidence)	MYBPC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arthrogryposis, distal, type 1B, 614335 Lethal congenital contracture syndrome 4, 614915 Tags
Green List (high evidence)	MYCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Feingold syndrome, 164280 Tags
Green List (high evidence)	MYH3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arthrogryposis, distal, type 2A, 193700 Arthrogryposis, distal, type 2B, 601680 Tags
Green List (high evidence)	MYH6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cardiomyopathy, familial hypertrophic, 14, 613251 Atrial septal defect 3, 614089 Cardiomyopathy, dilated, 1EE, 613252 {Sick sinus syndrome 3}, 614090 Tags
Green List (high evidence)	MYH8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Carney complex variant, 608837 Trismus-pseudocamptodactyly syndrome, 158300 Tags
Green List (high evidence)	MYH9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes May-Hegglin anomaly, 155100 Fechtner syndrome, 153640 Sebastian syndrome, 605249 Deafness, autosomal dominant 17, 603622 Epstein syndrome, 153650 Macrothrombocytopenia and progressive sensorineural deafness, 600208 Tags
Green List (high evidence)	MYO5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Griscelli syndrome, type 1, 214450 Tags
Green List (high evidence)	MYO5B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microvillus inclusion disease, 251850 Tags
Green List (high evidence)	MYO7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Usher syndrome, type 1B, 276900 Deafness, autosomal recessive 2, 600060 Deafness, autosomal dominant 11, 601317 Tags
Green List (high evidence)	MYT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual disability Tags
Green List (high evidence)	NAA10	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes N-terminal acetyltransferase deficiency, 300855 ?Microphthalmia, syndromic 1, 309800 Tags
Green List (high evidence)	NACC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Infantile Epilepsy, Cataracts, and Delay Tags
Green List (high evidence)	NAGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Schindler disease, type I, 609241 Kanzaki disease, 609242 Schindler disease, type III, 609241 Tags
Green List (high evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 Tags
Green List (high evidence)	NAGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes N-acetylglutamate synthase deficiency, 237310 Tags
Green List (high evidence)	NALCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419 Tags
Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes infantile-onset severe developmental delay and skeletal dysplasia Tags
Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nijmegen breakage syndrome, 251260 Aplastic anemia, 609135 Leukemia, acute lymphoblastic, 613065 Tags
Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lissencephaly 4 (with microcephaly), 614019 ?Microhydranencephaly, 605013 Tags
Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Norrie disease, 310600 Exudative vitreoretinopathy 2, X-linked, 305390 Tags
Green List (high evidence)	NDRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 Tags
Green List (high evidence)	NDUFA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Tags
Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome, 256000 Tags
Green List (high evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Green List (high evidence)	NEFL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 Tags
Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Sialidosis, type I, 256550 Sialidosis, type II, 256550 Tags
Green List (high evidence)	NEXMIF	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 98, 300912 Tags
Green List (high evidence)	NF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurofibromatosis, type 1, 162200 Leukemia, juvenile myelomonocytic, 607785 Neurofibromatosis, familial spinal, 162210 Neurofibromatosis-Noonan syndrome, 601321 Watson syndrome, 193520 Tags
Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Sotos syndrome 2, 614753 Marshall-Smith syndrome, 602535 Tags
Green List (high evidence)	NFU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 Tags
Green List (high evidence)	NGLY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iv, 615273 Tags
Green List (high evidence)	NHEJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 Tags
Green List (high evidence)	NHLRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 Tags
Green List (high evidence)	NHS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nance-Horan syndrome, 302350 Cataract 40, X-linked, 302200 Tags
Green List (high evidence)	NIPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 6, autosomal dominant, 600363 Tags
Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cornelia de Lange syndrome 1, 122470 Tags
Green List (high evidence)	NKX2-1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Goiter, familial, due to TTF-1 defect Chorea, hereditary benign, 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 Tags
Green List (high evidence)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Atrial septal defect 7, with or without AV conduction defects, 108900 Tetrology of Fallot, 187500 Hypothyroidism, congenital nongoitrous, 5, 225250 Ventricular septal defect 3, 614432 Hypoplastic left heart syndrome 2, 614435 Conotruncal heart malformations, variable, 217095 Tags
Green List (high evidence)	NKX3-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 Tags
Green List (high evidence)	NMNAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leber congenital amaurosis 9, 608553 Tags
Green List (high evidence)	NODAL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Heterotaxy, visceral, 5, 270100 Tags
Green List (high evidence)	NOG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Symphalangism, proximal, 185800 Multiple synostoses syndrome 1, 186500 Tarsal-carpal coalition syndrome, 186570 Stapes ankylosis with broad thumb and toes, 184460 Brachydactyly, type B2, 611377 Tags
Green List (high evidence)	NONO	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY Tags
Green List (high evidence)	NOP56	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 36, 614153 Tags
Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alagille syndrome 2, 610205 Hajdu-Cheney syndrome, 102500 Tags
Green List (high evidence)	NPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Niemann-Pick disease, type C1, 257220 Niemann-Pick disease, type D, 257220 Tags
Green List (high evidence)	NPC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Niemann-pick disease, type C2, 607625 Tags
Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nephronophthisis 1, juvenile, 256100 Senior-Loken syndrome-1, 266900 Joubert syndrome 4, 609583 Tags
Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Meckel syndrome 7, 267010 Tags
Green List (high evidence)	NPHP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nephronophthisis 4, 606966 Senior-Loken syndrome 4, 606996 Tags
Green List (high evidence)	NPHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nephrotic syndrome, type 1, 256300 Tags
Green List (high evidence)	NPHS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nephrotic syndrome, type 2, 600995 Tags
Green List (high evidence)	NPR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Acromesomelic dysplasia, Maroteaux type, 602875 Epiphyseal chondrodysplasia, Miura type, 615923 Tags
Green List (high evidence)	NR2F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 Tags
Green List (high evidence)	NR2F2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital heart defects, multiple types, 4, 615779 Tags
Green List (high evidence)	NR5A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 46XY sex reversal 3, 612965 Premature ovarian failure 7, 612964 Adrenocortical insufficiency Spermatogenic failure 8, 613957 Tags
Green List (high evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Autoimmune lymphoproliferative syndrome type IV, 614470 Noonan syndrome 6, 613224 Epidermal nevus, somatic, 162900 Thyroid carcinoma, follicular, somatic, 188470 Colorectal cancer, somatic, 114500 Melanocytic nevus syndrome, congenital, somatic, 137550 Neurocutaneous melanosis, somatic, 249400 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Tags
Green List (high evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Sotos syndrome 1, 117550 Leukemia, acute myeloid, 601626 Beckwith-Wiedemann syndrome, 130650 Tags
Green List (high evidence)	NSDHL	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes CHILD syndrome, 308050 CK syndrome, 300831 Tags
Green List (high evidence)	NT5C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 45, 613162 Tags
Green List (high evidence)	NT5C3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Tags
Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 Medullary thyroid carcinoma, familial, 155240 Tags
Green List (high evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME Tags
Green List (high evidence)	NYX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Tags
Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-M syndrome 2, 612921 Tags
Green List (high evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lowe syndrome, 309000 Dent disease 2, 300555 Tags
Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Orofaciodigital syndrome I, 311200 Simpson-Golabi-Behmel syndrome, type 2, 300209 Joubert syndrome 10, 300804 ?Retinitis pigmentosa 23, 300424 Tags
Green List (high evidence)	OPA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 Tags
Green List (high evidence)	OPHN1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meier-Gorlin syndrome 1, 224690 Tags
Green List (high evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meier-Gorlin syndrome 2, 613800 Tags
Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meier-Gorlin syndrome 3, 613803 Tags
Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ornithine transcarbamylase deficiency, 311250 Tags
Green List (high evidence)	OTOGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Deafness, autosomal recessive 84B, 614944 Tags
Green List (high evidence)	OTUD6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features Tags
Green List (high evidence)	OTULIN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Otulin-related auto inflammatory syndrome (ORAS) Tags
Green List (high evidence)	OTX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 5, 610125 Pituitary hormone deficiency, combined, 6, 613986 Retinal dystrophy, early-onset, and pituitary dysfunction, 610125 Tags
Green List (high evidence)	OXCT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Tags
Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteogenesis imperfecta, type VIII, 610915 Tags
Green List (high evidence)	PACS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 17, 615009 Tags
Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lissencephaly 1, 607432 Subcortical laminar heterotopia, 607432 Tags
Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Phenylketonuria, 261600 [Hyperphenylalaninemia, non-PKU mild], 261600 Tags
Green List (high evidence)	PAK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 30/47, 300558 Tags
Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group N, 610832 {Breast cancer, susceptibility to}, 114480 {Pancreatic cancer, susceptibility to, 3}, 613348 Tags
Green List (high evidence)	PANK2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 1, 234200 HARP syndrome, 607236 Tags
Green List (high evidence)	PAPSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 Tags
Green List (high evidence)	PARK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 Tags
Green List (high evidence)	PARN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6 Tags
Green List (high evidence)	PAX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Papillorenal syndrome, 120330 Renal hypoplasia, isolated, 191830 Glomerulosclerosis, focal segmental, 7, 616002 Tags
Green List (high evidence)	PAX3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Rhabdomyosarcoma 2, alveolar, 268220 Tags
Green List (high evidence)	PAX6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aniridia, 106210 Peters anomaly, 604229 Cataract with late-onset corneal dystrophy, 106210 Keratitis, 148190 Foveal hypoplasia 1, 136520 ?Morning glory disc anomaly, 120430 Optic nerve hypoplasia, 165550 Coloboma, ocular, 120200 Coloboma of optic nerve, 120430 Gillespie syndrome, 206700 Tags
Green List (high evidence)	PAX8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 Tags
Green List (high evidence)	PAX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tooth agenesis, selective, 3, 604625 Tags
Green List (high evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pyruvate carboxylase deficiency, 266150 Tags
Green List (high evidence)	PCBD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 Tags
Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Propionicacidemia, 606054 Tags
Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Propionicacidemia, 606054 Tags
Green List (high evidence)	PCDH19	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 9, 300088 Tags
Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 Tags
Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Green List (high evidence)	PDCD10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebral cavernous malformations 3, 603285 Tags
Green List (high evidence)	PDE4D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Stroke, susceptibility to, 1}, 606799 Acrodysostosis 2, with or without hormone resistance, 614613 Tags
Green List (high evidence)	PDE6G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Retinitis pigmentosa 57, 613582 Tags
Green List (high evidence)	PDGFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meningioma, SIS-related, 607174 Dermatofibrosarcoma protuberans, 607907 Basal ganglia calcification, idiopathic, 5, 615483 Tags
Green List (high evidence)	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myeloproliferative disorder with eosinophilia, 131440 Basal ganglia calcification, idiopathic, 4, 615007 Myofibromatosis, infantile, 1, 228550 Tags
Green List (high evidence)	PDHA1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170 Tags
Green List (high evidence)	PDHX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lacticacidemia due to PDX1 deficiency, 245349 Tags
Green List (high evidence)	PDSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Tags
Green List (high evidence)	PDYN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 23, 610245 Tags
Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Prolidase deficiency, 170100 Tags
Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871 Tags
Green List (high evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883 Peroxisome biogenesis disorder 11B, 614885 Tags
Green List (high evidence)	PEX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green List (high evidence)	PEX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866 Peroxisome biogenesis disorder 5B, 614867 Tags
Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Tags
Green List (high evidence)	PEX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), 614882 Tags
Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 Peroxisome biogenesis disorder 2B, 202370 Tags
Green List (high evidence)	PEX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 Peroxisome biogenesis disorder 4B, 614863 Tags
Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Peroxisome biogenesis disorder 9B, 614879 Tags
Green List (high evidence)	PGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Mental retardation, autosomal recessive 42, 615802 Tags
Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 Tags
Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 Tags
Green List (high evidence)	PGK1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 Tags
Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type It, 614921 Tags
Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Immunodeficiency 23, 615816 Tags
Green List (high evidence)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 Tags
Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 Tags
Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815 Neu-Laxova syndrome1, 256520 Tags
Green List (high evidence)	PHOX2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 {Neuroblastoma, susceptibility to, 2}, 613013 Neuroblastoma with Hirschsprung disease, 613013 Tags
Green List (high evidence)	PIEZO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arthrogryposis, distal, type 5, 108145 Arthrogryposis, distal, type 3, 114300 ?Marden-Walker syndrome, 248700 Tags
Green List (high evidence)	PIGA	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Paroxysmal nocturnal hemoglobinuria, somatic, 300818 Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 Tags
Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes CHIME syndrome, 280000 Tags
Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 Tags
Green List (high evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 Tags
Green List (high evidence)	PIGT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Paroxysmal nocturnal hemoglobinuria 2, 615399 ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 Tags
Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 Tags
Green List (high evidence)	PIK3CA	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ovarian cancer, somatic, 167000 Breast cancer, somatic, 114480 Colorectal cancer, somatic, 114500 Gastric cancer, somatic, 613659 Hepatocellular carcinoma, somatic, 114550 Nonsmall cell lung cancer, somatic, 211980 Keratosis, seborrheic, somatic, 182000 Nevus, epidermal, somatic, 162900 CLOVE syndrome, somatic, 612918 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 Cowden syndrome 5, 615108 Tags
Green List (high evidence)	PIK3R1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Agammaglobulinemia 7, autosomal recessive, 615214 SHORT syndrome, 269880 Immunodeficiency 36, 616005 Tags
Green List (high evidence)	PIK3R2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 Tags
Green List (high evidence)	PINK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 6, early onset, 605909 Tags
Green List (high evidence)	PITX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Axenfeld-Rieger syndrome, type 1, 180500 Iridogoniodysgenesis, type 2, 137600 Ring dermoid of cornea, 180550 Peters anomaly, 604229 Tags
Green List (high evidence)	PITX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Cataract 11, multiple types, 610623 Cataract 11, syndromic, 610623 Tags
Green List (high evidence)	PKD1L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Laterality defects Tags
Green List (high evidence)	PKHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polycystic kidney and hepatic disease, 263200 Tags
Green List (high evidence)	PLA2G6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B, 610217 Parkinson disease 14, 612953 Tags
Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic Encephalopathy Tags
Green List (high evidence)	PLCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 12, 613722 Tags
Green List (high evidence)	PLCE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nephrotic syndrome, type 3, 610725 Tags
Green List (high evidence)	PLEC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Epidermolysis bullosa simplex, Ogna type, 131950 Epidermolysis bullosa simplex with pyloric atresia, 612138 Muscular dystrophy, limb-girdle, type 2Q, 613723 Tags
Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 Tags
Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ehlers-Danlos syndrome, type VI, 225400 Tags
Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bruck syndrome 2, 609220 Tags
Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pelizaeus-Merzbacher disease, 312080 Spastic paraplegia 2, X-linked, 312920 Tags
Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ia, 212065 Tags
Green List (high evidence)	PMP22	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 1A, 118220 Dejerine-Sottas disease, 145900 Neuropathy, recurrent, with pressure palsies, 162500 Charcot-Marie-Tooth disease, type 1E, 118300 Roussy-Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393 Tags
Green List (high evidence)	PMS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mismatch repair cancer syndrome, 276300 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 Tags
Green List (high evidence)	PNKD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Paroxysmal nonkinesigenic dyskinesia, 118800 Tags
Green List (high evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly, seizures, and developmental delay, 613402 Tags
Green List (high evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 39, autosomal recessive, 612020 Boucher-Neuhauser syndrome, 215470 Tags
Green List (high evidence)	PNPO	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 Tags
Green List (high evidence)	PNPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 13, 614932 Deafness, autosomal recessive 70, 614934 Tags
Green List (high evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Tags
Green List (high evidence)	POC1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cone-rod dystrophy 20, 615973 Tags
Green List (high evidence)	POGZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability Tags
Green List (high evidence)	POLD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Colorectal cancer, susceptibility to, 10}, 612591 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 Tags
Green List (high evidence)	POLG	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Progressive external ophthalmoplegia, autosomal recessive, 258450 Progressive external ophthalmoplegia, autosomal dominant, 157640 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Tags
Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Treacher Collins syndrome 3, 248390 Tags
Green List (high evidence)	POLR1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Treacher Collins syndrome 2, 613717 Tags
Green List (high evidence)	POLR3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Tags
Green List (high evidence)	POLR3B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 Tags
Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 Tags
Green List (high evidence)	POMGNT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Tags
Green List (high evidence)	POMT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 Tags
Green List (high evidence)	POMT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 Tags
Green List (high evidence)	PORCN	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Focal dermal hypoplasia, 305600 Tags
Green List (high evidence)	POU1F1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 1, 613038 Tags
Green List (high evidence)	PPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Sudden arrhythmic cardiac death after infectious or alcohol trigger Tags
Green List (high evidence)	PPM1D	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Breast cancer, 114480 Tags
Green List (high evidence)	PPP1CB	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	PPP2R1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability Tags
Green List (high evidence)	PPP2R2B	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 12, 604326 Tags
Green List (high evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual disability Tags
Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 Tags
Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Renpenning syndrome, 309500 Tags
Green List (high evidence)	PRDM12	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	PRICKLE1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1B, 612437 Tags
Green List (high evidence)	PRICKLE2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 5, 613832 Tags
Green List (high evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Carney complex, type 1, 160980 Myxoma, intracardiac, 255960 Thyroid carcinoma, papillary, somatic, 188550 Pigmented nodular adrenocortical disease, primary, 1, 610489 Adrenocortical tumor, somatic, Acrodysostosis 1, with or without hormone resistance, 101800 Tags
Green List (high evidence)	PRKCG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 14, 605361 Tags
Green List (high evidence)	PRKD1	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	PRKN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease, juvenile, type 2, 600116 Adenocarcinoma of lung, somatic, 211980 Adenocarcinoma, ovarian, somatic, 167000 {Leprosy, susceptibility to}, 607572 Tags
Green List (high evidence)	PRKRA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia 16, 612067 Tags
Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pseudohypoparathyroidism-like disorder Tags
Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 2, 262600 Tags
Green List (high evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Gout, PRPS-related, 300661 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Arts syndrome, 301835 Deafness, X-linked 1, 304500 Tags
Green List (high evidence)	PRRT2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Episodic kinesigenic dyskinesia 1, 128200 Seizures, benign familial infantile, 2, 605751 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 Tags
Green List (high evidence)	PRSS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal recessive 1, 249500 Tags
Green List (high evidence)	PRSS56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, isolated 6, 613517 Tags
Green List (high evidence)	PRUNE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Complex neurological syndrome Tags
Green List (high evidence)	PRX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dejerine-Sottas disease, 145900 Charcot-Marie-Tooth disease, type 4F, 614895 Tags
Green List (high evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Gaucher disease, atypical, 610539 Combined SAP deficiency, 611721 Krabbe disease, atypical, 611722 Tags
Green List (high evidence)	PSEN1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Alzheimer disease, type 3, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Dementia, frontotemporal, 600274 Pick disease, 172700 Cardiomyopathy, dilated, 1U, 613694 Acne inversa, familial, 3, 613737 Tags
Green List (high evidence)	PSMB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 Tags
Green List (high evidence)	PSMD12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Syndromic Neurodevelopmental Disorder Tags
Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Phosphoserine phosphatase deficiency, 614023 Tags
Green List (high evidence)	PTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Basal cell nevus syndrome, 109400 Basal cell carcinoma, somatic, 605462 Holoprosencephaly-7, 610828 Tags
Green List (high evidence)	PTCHD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Autism/ID Tags
Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 Tags
Green List (high evidence)	PTEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cowden syndrome 1, 158350 Lhermitte-Duclos syndrome, 158350 Bannayan-Riley-Ruvalcaba syndrome, 153480 {Meningioma}, 607174 {Glioma susceptibility 2}, 613028 Macrocephaly/autism syndrome, 605309 PTEN hamartoma tumor syndrome VATER association with macrocephaly and ventriculomegaly, 276950 {Prostate cancer, somatic}, 176807 Thyroid carcinoma, follicular, somatic, 188470 Malignant melanoma, somatic, 155600 Endometrial carcinoma, somatic, 608089 Squamous cell carcinoma, head and neck, somatic, 275355 Tags
Green List (high evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pancreatic and cerebellar agenesis, 609069 Pancreatic agenesis 2, 615935 Tags
Green List (high evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Metaphyseal chondrodysplasia, Murk Jansen type, 156400 Chondrodysplasia, Blomstrand type, 215045 Eiken syndrome, 600002 Failure of tooth eruption, primary, 125350 Tags
Green List (high evidence)	PTHLH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Humoral hypercalcemia of malignancy Brachydactyly, type E2, 613382 Tags
Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Noonan syndrome 1, 163950 LEOPARD syndrome 1, 151100 Leukemia, juvenile myelomonocytic, 607785 Metachondromatosis, 156250 Tags
Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 Tags
Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Verheij syndrome, 615583 Tags
Green List (high evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 31, 616158 Tags
Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 Cutis laxa, autosomal recessive, type IIIB, 614438 Tags
Green List (high evidence)	PYGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glycogen storage disease VI, 232700 Tags
Green List (high evidence)	QARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 Tags new-gene-name
Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Tags
Green List (high evidence)	QRICH1	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Warburg micro syndrome 3, 614222 Tags
Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Carpenter syndrome, 201000 Tags
Green List (high evidence)	RAB39B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 72, 300271 ?Waisman syndrome, 311510 Tags
Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Warburg micro syndrome 1, 600118 Tags
Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Martsolf syndrome, 212720 Warburg micro syndrome 2, 614225 Tags
Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cornelia de Lange syndrome 4, 614701 Tags
Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Noonan syndrome 5, 611553 LEOPARD syndrome 2, 611554 Cardiomyopathy, dilated, 1NN, 615916 Tags
Green List (high evidence)	RAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Smith-Magenis syndrome, 182290 Tags
Green List (high evidence)	RAPSN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 Fetal akinesia deformation sequence, 208150 Tags
Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 12, 615524 Tags
Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Tags
Green List (high evidence)	RASA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkes Weber syndrome, 608355 Capillary malformation-arteriovenous malformation, 608354 Basal cell carcinoma, somatic, 605462 Tags
Green List (high evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, isolated 3, 611038 Tags
Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Thrombocytopenia-absent radius syndrome, 274000 Tags
Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rothmund-Thomson syndrome, 268400 RAPADILINO syndrome, 266280 Baller-Gerold syndrome, 218600 Tags
Green List (high evidence)	REEP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 ?Neuronopathy, distal hereditary motor, type VB, 614751 Tags
Green List (high evidence)	REEP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625 ?Spastic paraplegia 72, autosomal dominant, 615625 Tags
Green List (high evidence)	RELN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lissencephaly 2 (Norman-Roberts type), 257320 Tags
Green List (high evidence)	RERE	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	RET	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Multiple endocrine neoplasia IIA, 171400 Medullary thyroid carcinoma, 155240 Multiple endocrine neoplasia IIB, 162300 Central hypoventilation syndrome, congenital, 209880 Pheochromocytoma, 171300 Renal agenesis, 191830 {Hirschsprung disease, susceptibility to, 1}, 142623 Tags
Green List (high evidence)	RETREG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Tags
Green List (high evidence)	RFX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitchell-Riley syndrome, 615710 Tags
Green List (high evidence)	RIPK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Popliteal pterygium syndrome 2, lethal type, 263650 Tags
Green List (high evidence)	RIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Noonan syndrome 8, 615355 Tags
Green List (high evidence)	RMRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cartilage-hair hypoplasia, 250250 Metaphyseal dysplasia without hypotrichosis, 250460 Anauxetic dysplasia, 607095 Tags
Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 2, 610181 Tags
Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Green List (high evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 Tags
Green List (high evidence)	RNF135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 Tags
Green List (high evidence)	RNF216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Green List (high evidence)	RNU4ATAC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, 210710 Tags locus-type-rna-small-nuclear
Green List (high evidence)	ROBO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Gaze palsy, horizontal, with progressive scoliosis, 607313 Tags
Green List (high evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Kohlschutter-Tonz syndrome, 226750 Tags
Green List (high evidence)	ROR2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brachydactyly, type B1, 113000 Robinow syndrome, autosomal recessive, 268310 Tags
Green List (high evidence)	RPE65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leber congenital amaurosis 2, 204100 Retinitis pigmentosa 20, 613794 Tags
Green List (high evidence)	RPGRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194 Tags
Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 7, 611560 Meckel syndrome 5, 611561 COACH syndrome, 216360 Tags
Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Diamond-Blackfan anemia 1, 105650 Tags
Green List (high evidence)	RPS6KA3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Coffin-Lowry syndrome, 303600 Mental retardation, X-linked19, 300844 Tags
Green List (high evidence)	RSPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 24, 615481 Tags
Green List (high evidence)	RSPH3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	RSPO4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Anonychia congenita, 206800 Tags
Green List (high evidence)	RTEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 Dyskeratosis congenita, autosomal dominant 4, 615190 Tags
Green List (high evidence)	RTN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 Tags
Green List (high evidence)	RTN4IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes EARLY-ONSET RECESSIVE OPTIC NEUROPATHY Tags
Green List (high evidence)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polymicrogyria with seizures, 614833 Microcephaly, evere growth failure, brain malformations and dermatitis Tags
Green List (high evidence)	RUNX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cleidocranial dysplasia, 119600 Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 Tags
Green List (high evidence)	RYR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600 Tags
Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Tags
Green List (high evidence)	SALL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Townes-Brocks syndrome, 107480 Townes-Brocks branchiootorenal-like syndrome, 107480 Tags
Green List (high evidence)	SALL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Duane-radial ray syndrome, 607323 IVIC syndrome, 147750 Tags
Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 5, 612952 Chilblain lupus 2, 614415 Tags
Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Glass syndrome, 612313 Tags
Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Shwachman-Bodian-Diamond syndrome, 260400 Tags
Green List (high evidence)	SBF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 Tags
Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lathosterolosis, 607330 Tags
Green List (high evidence)	SCARB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 Tags
Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Van den Ende-Gupta syndrome, 600920 Tags
Green List (high evidence)	SCN11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552 Tags
Green List (high evidence)	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403 Dravet syndrome, 607208 Migraine, familial hemiplegic, 3, 609634 Febrile seizures, familial, 3A, 604403 Tags
Green List (high evidence)	SCN1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233 Brugada syndrome 5, 612838 Cardiac conduction defect, nonspecific, 612838 Atrial fibrillation, familial, 13, 615377 Tags
Green List (high evidence)	SCN2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Seizures, benign familial infantile, 3, 607745 Epileptic encephalopathy, early infantile, 11, 613721 Tags
Green List (high evidence)	SCN4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperkalemic periodic paralysis, type 2, 170500 Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Myasthenic syndrome, acetazolamide-responsive, 614198 Hypokalemic periodic paralysis, type 2, 613345 Tags
Green List (high evidence)	SCN8A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cognitive impairment with or without cerebellar ataxia, 614306 Epileptic encephalopathy, early infantile, 13, 614558 Tags
Green List (high evidence)	SCN9A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Erythermalgia, primary, 133020 Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000 Febrile seizures, familial, 3B, 613863 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Small fiber neuropathy, 133020 {Dravet syndrome, modifier of}, 607208 HSAN2D, autosomal recessive, 243000 Tags
Green List (high evidence)	SCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hepatic failure, early onset, and neurologic disorder Mitochondrial complex IV deficiency Tags
Green List (high evidence)	SCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 Tags
Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Senior-Loken syndrome 7, 613615 Bardet-Biedl syndrome 16, 615993 Tags
Green List (high evidence)	SDHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy, dilated, 1GG, 613642 Paragangliomas 5, 614165 Tags
Green List (high evidence)	SDHAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex II deficiency, 252011 Tags
Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type II, 224100 Tags
Green List (high evidence)	SET	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	SETBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Schinzel-Giedion midface retraction syndrome, 269150 Mental retardation, autosomal dominant 29, 616078 Tags
Green List (high evidence)	SETD5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	SETX	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia-ocular apraxia-2, 606002 Amyotrophic lateral sclerosis 4, juvenile, 602433 Tags
Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Acrofacial dysostosis 1, Nager type, 154400 Tags
Green List (high evidence)	SGCE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia-11, myoclonic, 159900 Tags
Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 Tags
Green List (high evidence)	SH3PXD2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Frank-ter Haar syndrome, 249420 Tags
Green List (high evidence)	SH3TC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4C, 601596 Mononeuropathy of the median nerve, mild, 613353 Tags
Green List (high evidence)	SHANK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Phelan-McDermid syndrome, 606232 {Schizophrenia 15}, 613950 Rett syndrome (RTT) Tags
Green List (high evidence)	SHH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holoprosencephaly-3, 142945 Single median maxillary central incisor, 147250 Microphthalmia with coloboma 5, 611638 Schizencephaly, 269160 Tags
Green List (high evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Noonan-like syndrome with loose anagen hair, 607721 Tags
Green List (high evidence)	SHOX	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short stature, idiopathic familial, 300582 Leri-Weill dyschondrosteosis, 127300 Langer mesomelic dysplasia, 249700 Tags Pseudoautosomal region 1
Green List (high evidence)	SIGMAR1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Amyotrophic lateral sclerosis 16, juvenile, 614373 Tags
Green List (high evidence)	SIK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green List (high evidence)	SIN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY Tags
Green List (high evidence)	SIX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brachiootic syndrome 3, 608389 Deafness, autosomal dominant 23, 605192 Tags
Green List (high evidence)	SIX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holoprosencephaly-2, 157170 Schizencephaly, 269160 Tags
Green List (high evidence)	SIX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Branchiootorenal syndrome 2, 610896 Tags
Green List (high evidence)	SKI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Shprintzen-Goldberg syndrome, 182212 Tags
Green List (high evidence)	SKIV2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Trichohepatoenteric syndrome 2, 614602 Tags
Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 Tags
Green List (high evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 25, 615905 Tags
Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Allan-Herndon-Dudley syndrome, 300523 Tags
Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Salla disease, 604369 Sialic acid storage disorder, infantile, 269920 Tags
Green List (high evidence)	SLC19A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 Tags
Green List (high evidence)	SLC20A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 1, 213600 Tags
Green List (high evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Carnitine deficiency, systemic primary, 212140 Tags
Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 Tags
Green List (high evidence)	SLC25A20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency, 212138 Tags
Green List (high evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Tags
Green List (high evidence)	SLC25A26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY Tags
Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Tags
Green List (high evidence)	SLC26A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Diastrophic dysplasia, 222600 Atelosteogenesis II, 256050 Achondrogenesis Ib, 600972 Epiphyseal dysplasia, multiple, 4, 226900 Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 De la Chapelle dysplasia, 256050 Tags
Green List (high evidence)	SLC27A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ichthyosis prematurity syndrome, 608649 Tags
Green List (high evidence)	SLC2A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes GLUT1 deficiency syndrome 1, 606777 GLUT1 deficiency syndrome 2, 612126 {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 Dystonia 9, 601042 Tags
Green List (high evidence)	SLC2A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arterial tortuosity syndrome, 208050 Tags
Green List (high evidence)	SLC2A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Diabetes mellitus, noninsulin-dependent}, 135853 Fanconi-Bickel syndrome, 227810 Tags
Green List (high evidence)	SLC33A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 42, autosomal dominant, 612539 Congenital cataracts, hearing loss, and neurodegeneration, 614482 Tags
Green List (high evidence)	SLC35A2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIm, 300896 Tags
Green List (high evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIc, 266265 Tags
Green List (high evidence)	SLC35D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Schneckenbecken dysplasia, 269250 Tags
Green List (high evidence)	SLC39A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 Tags
Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability with Cerebellar Atrophy Tags
Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Folate malabsorption, hereditary, 229050 Tags
Green List (high evidence)	SLC4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ovalocytosis Spherocytosis, type 4, 612653 [Malaria, resistance to], 611162 Renal tubular acidosis, distal, AD, 179800 Renal tubular acidosis, distal, AR, 611590 [Blood group, Diego], 110500 [Blood group, Waldner], 112010 [Blood group, Wright], 112050 [Blood group, Froese], 601551 [Blood group, Swann], 601550 Tags
Green List (high evidence)	SLC4A11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Corneal endothelial dystrophy 2, autosomal recessive, 217700 Corneal endothelial dystrophy and perceptive deafness, 217400 Corneal dystrophy, Fuchs endothelial, 4, 613268 Tags
Green List (high evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 Tags
Green List (high evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 Fazio-Londe disease, 211500 Tags
Green List (high evidence)	SLC5A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 1, 274400 Tags
Green List (high evidence)	SLC6A1	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	SLC6A17	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	SLC6A19	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hartnup disorder, 234500 Iminoglycinuria, digenic, 242600 Hyperglycinuria, 138500 Tags
Green List (high evidence)	SLC6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Nicotine dependence, protection against}, 188890 Parkinsonism-dystonia, infantile, 613135 Tags
Green List (high evidence)	SLC6A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hyperekplexia 3, 614618 Tags
Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 1, 300352 Tags
Green List (high evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fanconi anemia, complementation group P, 613951 Tags
Green List (high evidence)	SMAD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Loeys-Dietz syndrome, type 3, 613795 Tags
Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pancreatic cancer, somatic, 260350 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 Myhre syndrome, 139210 Polyposis, juvenile intestinal, 174900 Tags
Green List (high evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nicolaides-Baraitser syndrome, 601358 Tags
Green List (high evidence)	SMARCA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Rhabdoid tumor predisposition syndrome 2}, 613325 Mental retardation, autosomal dominant 16, 614609 Tags
Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Schimke immunoosseous dysplasia, 242900 Tags
Green List (high evidence)	SMARCB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rhabdoid tumors, somatic, 609322 {Rhabdoid predisposition syndrome 1}, 609322 Mental retardation, autosomal dominant 15, 614608 {Schwannomatosis-1, susceptibility to}, 162091 Tags
Green List (high evidence)	SMC1A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cornelia de Lange syndrome 2, 300590 Tags
Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cornelia de Lange syndrome 3, 610759 Tags
Green List (high evidence)	SMCHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 Tags
Green List (high evidence)	SMO	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Curry-Jones Syndrome Tags
Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia with limb anomalies, 206920 Tags
Green List (high evidence)	SMPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616 Tags
Green List (high evidence)	SNCA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 4, 605543 Dementia, Lewy body, 127750 Parkinson disease 1, 168601 Tags
Green List (high evidence)	SNORD118	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukoencephalopathy with cerebral calcification & cysts Tags
Green List (high evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebro-costo-mandibular syndrome Tags
Green List (high evidence)	SNX14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability, Congenital Malformations, and Failure to Thrive Tags
Green List (high evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Fibromatosis, gingival, 135300 Noonan syndrome 4, 610733 Tags
Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Waardenburg syndrome, type 4C, 613266 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 PCWH syndrome, 609136 Tags
Green List (high evidence)	SOX17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Vesicoureteral reflux 3, 613674 Tags
Green List (high evidence)	SOX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 3, 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 Tags
Green List (high evidence)	SOX3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 Panhypopituitarism, X-linked, 312000 Tags
Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Campomelic dysplasia with autosomal sex reversal, 114290 Acampomelic campomelic dysplasia, 114290 Campomelic dysplasia, 114290 Tags
Green List (high evidence)	SPAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ciliary dyskinesia, primary, 28, 615505 Tags
Green List (high evidence)	SPART	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Troyer syndrome, 275900 Tags
Green List (high evidence)	SPAST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 4, autosomal dominant, 182601 Tags
Green List (high evidence)	SPATA5	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	SPEG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Centronuclear myopathy 5 ( 615959) Tags
Green List (high evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 Tags
Green List (high evidence)	SPG21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mast syndrome, 248900 Tags
Green List (high evidence)	SPG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 7, autosomal recessive, 607259 Tags
Green List (high evidence)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 Tags
Green List (high evidence)	SPRED1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Legius syndrome, 611431 Tags
Green List (high evidence)	SPTAN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 5, 613477 Tags
Green List (high evidence)	SPTBN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 5, 600224 Spinocerebellar ataxia, autosomal recessive 14, 615386 Tags
Green List (high evidence)	SPTLC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Green List (high evidence)	SRCAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Floating-Harbor syndrome, 136140 Tags
Green List (high evidence)	SRD5A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Green List (high evidence)	SRY	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 46XY SEX REVERSAL 1 Tags
Green List (high evidence)	ST3GAL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal recessive 12, 611090 Epileptic encephalopathy, early infantile, 15, 615006 Tags
Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Amish infantile epilepsy syndrome, 609056 Tags
Green List (high evidence)	STAG1	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly-capillary malformation syndrome, 614261 Tags
Green List (high evidence)	STAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lipoid adrenal hyperplasia, 201710 Tags
Green List (high evidence)	STAT1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 Immunodeficiency 31C, autosomal dominant, 614162 Tags
Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 7, primary, autosomal recessive, 612703 Tags
Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 9, 601186 Microphthalmia, isolated, with coloboma 8, 601186 Tags
Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 Tags
Green List (high evidence)	STS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ichthyosis, X-linked, 308100 Tags
Green List (high evidence)	STUB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768 Tags
Green List (high evidence)	STX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 Tags
Green List (high evidence)	STXBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 4, 612164 Tags
Green List (high evidence)	SUCLG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags
Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Multiple sulfatase deficiency, 272200 Tags
Green List (high evidence)	SURF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leigh syndrome, due to COX deficiency, 256000 Tags
Green List (high evidence)	SYNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 Tags
Green List (high evidence)	SYNGAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal dominant 5, 612621 Tags
Green List (high evidence)	SYNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 20, early-onset, 615530 Tags
Green List (high evidence)	SYP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 96, 300802 Tags
Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital heart defects, nonsyndromic, 2, 614980 Tags
Green List (high evidence)	TAF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia-Parkinsonism, X-linked, 314250 Tags
Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy Tags
Green List (high evidence)	TARDBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069 Frontotemporal lobar degeneration, TARDBP-related, 612069 Tags
Green List (high evidence)	TAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tyrosinemia, type II, 276600 Tags
Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Barth syndrome, 302060 Tags
Green List (high evidence)	TBC1D24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Myoclonic epilepsy, infantile, familial, 605021 Epileptic encephalopathy, early infantile, 16, 615338 DOOR syndrome, 220500 Deafness, autosomal recessive 86, 614617 Deafness, autosomal dominant 65, 616044 Tags
Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Early-Onset Neurodegenerative Encephalopathy Tags
Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Kenny-Caffey syndrome-1, 244460 Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 Tags
Green List (high evidence)	TBCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Severe Infantile Syndromic Encephalopathy Tags
Green List (high evidence)	TBP	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 17, 607136 {Parkinson disease, susceptibility to}, 168600 Tags
Green List (high evidence)	TBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Conotruncal anomaly face syndrome, 217095 DiGeorge syndrome, 188400 Velocardiofacial syndrome, 192430 Tetralogy of Fallot, 187500 Tags
Green List (high evidence)	TBX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cousin Syndrome Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature Tags
Green List (high evidence)	TBX20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Atrial septal defect 4, 611363 Tags
Green List (high evidence)	TBX22	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cleft palate with ankyloglossia, 303400 ?Abruzzo-Erickson syndrome, 302905 Tags
Green List (high evidence)	TBX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ulnar-mammary syndrome, 181450 Tags
Green List (high evidence)	TBX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Small patella syndrome, 147891 Tags
Green List (high evidence)	TBX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holt-Oram syndrome, 142900 Tags
Green List (high evidence)	TBXAS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ghosal hematodiaphyseal syndrome, 231095 ?Thromboxane synthase deficiency, 614158 Tags
Green List (high evidence)	TCF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Craniosynostosis 3, 615314 Tags
Green List (high evidence)	TCF20	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pitt-Hopkins syndrome, 610954 Tags
Green List (high evidence)	TCN2	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Transcobalamin II deficiency, 275350 Tags
Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Treacher Collins syndrome 1, 154500 Tags
Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Orofaciodigital syndrome IV, 258860 Joubert syndrome 18, 614815 Tags
Green List (high evidence)	TECPR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Tags
Green List (high evidence)	TEK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Venous malformations, multiple cutaneous and mucosal, 600195 Tags
Green List (high evidence)	TERT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 4 Tags
Green List (high evidence)	TFAP2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Branchiooculofacial syndrome, 113620 Tags
Green List (high evidence)	TFAP2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Char syndrome, 169100 Tags
Green List (high evidence)	TFG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hereditary motor and sensory neuropathy, proximal type, 604484 ?Spastic paraplegia 57, autosomal recessive, 615658 Tags
Green List (high evidence)	TGDS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	TGFB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Camurati-Engelmann disease, 131300 {Cystic fibrosis lung disease, modifier of}, 219700 Tags
Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Loeys-Dietz syndrome, type 4, 614816 Tags
Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 1, 107970 ?Rienhoff syndrome, 615582 Tags
Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Loeys-Dietz syndrome, type 1, 609192 {Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 Tags
Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Colorectal cancer, hereditary nonpolyposis, type 6, 614331 Esophageal cancer, somatic, 133239 Loeys-Dietz syndrome, type 2, 610168 Tags
Green List (high evidence)	TGIF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holoprosencephaly-4, 142946 Tags
Green List (high evidence)	TGM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Segawa syndrome, recessive, 605407 Tags
Green List (high evidence)	THAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia 6, torsion, 602629 Tags
Green List (high evidence)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 Tags
Green List (high evidence)	TIMM8A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150 Tags
Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE Tags
Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green List (high evidence)	TMCO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 Tags
Green List (high evidence)	TMEM126B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscle Weakness and Isolated Complex I Deficiency Tags
Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk, 614727 Tags
Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 14, 614424 Tags
Green List (high evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green List (high evidence)	TMEM5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 Tags new-gene-name
Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Meckel syndrome 3, 607361 Joubert syndrome 6, 610688 {Bardet-Biedl syndrome 14, modifier of}, 209900 COACH syndrome, 216360 Nephronophthisis 11, 613550 Tags
Green List (high evidence)	TMEM70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Tags
Green List (high evidence)	TMPRSS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Iron-refractory iron deficiency anemia, 206200 Tags
Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes pontocerebellar hypoplasia Tags
Green List (high evidence)	TOR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia-1, torsion, 128100 Dystonia, early-onset atypical, with myoclonic features {Dystonia-1, modifier of} Tags
Green List (high evidence)	TP63	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 Split-hand/foot malformation 4, 605289 Hay-Wells syndrome, 106260 ADULT syndrome, 103285 Limb-mammary syndrome, 603543 Rapp-Hodgkin syndrome, 129400 Orofacial cleft 8, 129400 Tags
Green List (high evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Tags
Green List (high evidence)	TRAPPC2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal recessive 13, 613192 Tags
Green List (high evidence)	TREX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Chilblain lupus, 610448 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 {Systemic lupus erythematosus, susceptibility to}, 152700 Tags
Green List (high evidence)	TRIM32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 ?Bardet-Biedl syndrome 11, 615988 Tags
Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mulibrey nanism, 253250 Tags
Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual Disability Tags
Green List (high evidence)	TRIP11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Achondrogenesis, type IA, 200600 Tags
Green List (high evidence)	TRIP12	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Tags
Green List (high evidence)	TRPM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Tags
Green List (high evidence)	TRPS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Trichorhinophalangeal syndrome, type I, 190350 Trichorhinophalangeal syndrome, type III, 190351 Tags
Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Brachyolmia type 3, 113500 Spondylometaphyseal dysplasia, Kozlowski type, 184252 Metatropic dysplasia, 156530 Hereditary motor and sensory neuropathy, type IIc, 606071 Scapuloperoneal spinal muscular atrophy, 181405 [Sodium serum level QTL 1], 613508 Parastremmatic dwarfism, 168400 SED, Maroteaux type, 184095 Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Digital arthropathy-brachydactyly, familial, 606835 Tags
Green List (high evidence)	TSC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tuberous sclerosis-1, 191100 Lymphangioleiomyomatosis, 606690 Focal cortical dysplasia, Taylor balloon cell type, 607341 Tags
Green List (high evidence)	TSC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tuberous sclerosis-2, 613254 Lymphangioleiomyomatosis, somatic, 606690 Tags
Green List (high evidence)	TSEN54	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2A, 277470 Pontocerebellar hypoplasia type 4, 225753 Tags
Green List (high evidence)	TSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 Tags
Green List (high evidence)	TSHR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 1 275200 Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune, 609152 Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational, 603373 Tags
Green List (high evidence)	TSPAN7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 58, 300210 Tags
Green List (high evidence)	TTBK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 11, 604432 Tags
Green List (high evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green List (high evidence)	TTC37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Trichohepatoenteric syndrome 1, 222470 Tags
Green List (high evidence)	TTC7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intestinal atresia, multiple, 243150 Tags
Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Bardet-Biedl syndrome 8, 615985 ?Retinitis pigmentosa 51, 613464 Tags
Green List (high evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency, 277460 Tags
Green List (high evidence)	TUBA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Lissencephaly 3, 611603 Tags
Green List (high evidence)	TUBA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 Tags
Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 6, 615771 Tags
Green List (high evidence)	TUBB2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 Tags
Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polymicrogyria, symmetric or asymmetric, 610031 Tags
Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dystonia 4, torsion, autosomal dominant, 128101 Leukodystrophy, hypomyelinating, 6, 612438 Tags
Green List (high evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 Tags
Green List (high evidence)	TUSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal recessive 7, 611093 Tags
Green List (high evidence)	TWIST1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Saethre-Chotzen syndrome, 101400 Saethre-Chotzen syndrome with eyelid anomalies, 101400 Craniosynostosis, type 1, 123100 Robinow-Sorauf syndrome, 180750 Tags
Green List (high evidence)	TWIST2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Focal facial dermal dysplasia 3, Setleis type, 227260 Tags
Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Burn-McKeown syndrome, 608572 Tags
Green List (high evidence)	TYR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Albinism, oculocutaneous, type IA, 203100 Waardenburg syndrome/albinism, digenic, 103470 Albinism, oculocutaneous, type IB, 606952 [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 Tags
Green List (high evidence)	TYRP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Albinism, oculocutaneous, type III, 203290 [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 Tags
Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Severe Infantile-Onset Encephalopathy Tags
Green List (high evidence)	UBE2A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Nascimento-type, 300860 Tags
Green List (high evidence)	UBE3A	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Angelman syndrome, 105830 Tags
Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Blepharophimosis-ptosis-intellectual disability syndrome, 615057 Tags
Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Johanson-Blizzard syndrome, 243800 Tags
Green List (high evidence)	UGT1A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Orotic aciduria, 258900 Tags
Green List (high evidence)	UNC80	2 reviews 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	UPF3B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked, syndromic 14, 300676 Tags
Green List (high evidence)	UROC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Urocanase deficiency, 276880 Tags
Green List (high evidence)	UROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Porphyria, congenital erythropoietic, 263700 Tags
Green List (high evidence)	USB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Poikiloderma with neutropenia Tags
Green List (high evidence)	UVSSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes UV-sensitive syndrome 3, 614640 Tags
Green List (high evidence)	VAMP1	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags
Green List (high evidence)	VDR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Rickets, vitamin D-resistant, type IIA, 277440 ?Osteoporosis, involutional, 166710 Tags
Green List (high evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Tags
Green List (high evidence)	VLDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cohen syndrome, 216550 Tags
Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Tags
Green List (high evidence)	VPS35	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Parkinson disease 17, 614203 Tags
Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia with coloboma 3, 610092 Microphthalmia, isolated 2, 610093 Tags
Green List (high evidence)	WAC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Intellectual disability Tags
Green List (high evidence)	WASHC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 Ritscher-Schinzel syndrome, 220210 Tags
Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green List (high evidence)	WDR11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 Tags
Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Nephronophthisis 13, 614377 Cranioectodermal dysplasia 4, 614378 Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Tags
Green List (high evidence)	WDR34	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Green List (high evidence)	WDR35	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Cranioectodermal dysplasia 2, 613610 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Tags
Green List (high evidence)	WDR45	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodegeneration with brain iron accululation 5, 300894 Tags
Green List (high evidence)	WDR60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Tags new-gene-name
Green List (high evidence)	WDR62	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 Tags
Green List (high evidence)	WNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteogenesis imperfecta, type XV, 615220 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 Tags
Green List (high evidence)	WNT10B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Split-hand/foot malformation 6, 225300 Tags
Green List (high evidence)	WNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Tetra-amelia, autosomal recessive, 273395 Tags
Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Robinow syndrome, autosomal dominant, 180700 Tags
Green List (high evidence)	WNT7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820 Fuhrmann syndrome, 228930 Tags
Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 Tags
Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Wilms tumor, type 1, 194070 Denys-Drash syndrome, 194080 Nephrotic syndrome, type 4, 256370 Frasier syndrome, 136680 Meacham syndrome, 608978 Mesothelioma, somatic, 156240 Tags
Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Esophageal squamous cell carcinoma, somatic, 133239 Spinocrebellar ataxia, autosomal recessive 12, 614322 Epileptic encephalopathy, early infantile, 616211 Tags
Green List (high evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Xeroderma pigmentosum, group A, 278700 Tags
Green List (high evidence)	XPC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Xeroderma pigmentosum, group C, 278720 Tags
Green List (high evidence)	XRCC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Tags
Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes {Pseudoxanthoma elasticum, modifier of severity of}, 264800 Desbuquois dysplasia 2, 615777 Tags
Green List (high evidence)	ZBTB18	1 review 1 green	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes ?Mental retardation, autosomal dominant 22, 612337 Tags
Green List (high evidence)	ZBTB20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Primrose syndrome, 259050 Tags
Green List (high evidence)	ZC4H2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Wieacker-Wolff syndrome, 314580 Tags
Green List (high evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 Tags
Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mowat-Wilson syndrome, 235730 Tags
Green List (high evidence)	ZFP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Diabetes mellitus, transient neonatal, 1, 601410 Tags
Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Green List (high evidence)	ZIC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes CRANIOSYNOSTOSIS 6 Tags
Green List (high evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Holoprosencephaly-5, 609637 Tags
Green List (high evidence)	ZIC3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Heterotaxy, visceral, 1, X-linked 306955 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 VACTERL association, X-linked, 314390 Tags
Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612 Restrictive dermopathy, lethal, 275210 Tags
Green List (high evidence)	ZNF148	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes corpus callosum defects, developmental delay, short stature, and dysmorphisms Tags
Green List (high evidence)	ZNF711	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, X-linked 97, 300803 Tags

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