Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AP3B1 gene AP3B1 Expert list;Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2 608233 AR False 3 100;0;0 4.5 False ENSG00000132842 ENSG00000132842 HGNC:566 BLOC1S3 gene BLOC1S3 Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560 22709368;16385460;32687635 False 3 50;50;0 4.5 False ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S5 gene BLOC1S5 Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome, MONDO:0019312 32565547 False 3 100;0;0 4.5 False ENSG00000188428 ENSG00000188428 HGNC:18561 BLOC1S6 gene BLOC1S6 Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Hermansky-pudlak syndrome 9 614171 AR False 3 0;100;0 4.5 False ENSG00000104164 ENSG00000104164 HGNC:8549 CACNA1A gene CACNA1A Expert Review Green Albinism or congenital nystagmus Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500 19182766 False 3 100;0;0 4.5 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1F gene CACNA1F Expert list;Expert Review Green Albinism or congenital nystagmus Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL;Cone-rod dystrophy, X-linked, 3 300476 XLR;Aland Island eye disease 300600 XL False 3 100;0;0 4.5 False ENSG00000102001 ENSG00000102001 HGNC:1393 CASK gene CASK Expert list;Expert Review Green Albinism or congenital nystagmus Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, with or without nystagmus 300422;Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD;FG syndrome 4 300422 False 3 100;0;0 4.5 False ENSG00000147044 ENSG00000147044 HGNC:1497 CLDN11 gene CLDN11 Expert Review Green;Literature;NHS GMS Albinism or congenital nystagmus Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 22, OMIM:619328 33313762 False 3 100;0;0 4.5 False ENSG00000013297 ENSG00000013297 HGNC:8514 CNGB3 gene CNGB3 Expert Review;Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3, OMIM:262300 10888875;10958649;35332618 False 3 100;0;0 4.5 False ENSG00000170289 ENSG00000170289 HGNC:2153 DCT gene DCT Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism, type VIII, OMIM:619165;oculocutaneous albinism type 8, MONDO:0030899 33100333;33959807 False 3 100;0;0 4.5 False ENSG00000080166 ENSG00000080166 HGNC:2709 FRMD7 gene FRMD7 Expert Review Green Albinism or congenital nystagmus Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nystagmus 1, Congenital, X-Linked;Infantile Nystagmus;Nystagmus, infantile periodic alternating, X-linked, 310700;Nystagmus 1, congenital, X-linked, 310700;(not relevant if inheritance through paternal line) 24688117;17013395;21303855;17397053;18431453;17846367 False 3 0;0;0 4.5 False ENSG00000165694 ENSG00000165694 HGNC:8079 GPR143 gene GPR143 Expert Review Green Albinism or congenital nystagmus Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nystagmus 6, congenital, X-linked, 300814;Ocular albinism, type I;Ocular albinism, type I, Nettleship-Falls type, 300500 26160353;21423867;26061757;21541274 False 3 0;0;0 4.5 False ENSG00000101850 ENSG00000101850 HGNC:20145 HPS1 gene HPS1 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 9705234;10971344;9497254;7573033 False 3 0;0;0 4.5 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3 11455388;11590544 False 3 0;0;0 4.5 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4 11836498;15108212 False 3 0;0;0 4.5 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 18182080;28296950;12548288;27593200;26785811 False 3 0;0;0 4.5 False ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert list;Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6 614075 AR False 3 100;0;0 4.5 False ENSG00000166189 ENSG00000166189 HGNC:18817 LAMA1 gene LAMA1 Expert Review Green;Literature Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, OMIM:615960 25105227;28283601;33251915;29167897;328840387;32195884 False 3 0;100;0 4.5 False ENSG00000101680 ENSG00000101680 HGNC:6481 LRMDA gene LRMDA Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VII PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism;PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11;23395477 False 3 0;0;0 4.5 False ENSG00000148655 ENSG00000148655 HGNC:23405 LYST gene LYST Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome;oculo-cutaneous albinism;optic neuropathy with progressive vision loss 8896560;9215679;20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.;10482950 False 3 0;0;0 4.5 False ENSG00000143669 ENSG00000143669 HGNC:1968 OCA2 gene OCA2 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Skin/hair/eye pigmentation 1, blue/nonblue eyes;Albinism, brown oculocutaneous;Albinism, oculocutaneous, type II;Skin/hair/eye pigmentation 1, blond/brown hair;Oculocutaneous Albinism False 3 0;0;0 4.5 False ENSG00000104044 ENSG00000104044 HGNC:8101 PAX6 gene PAX6 Expert list;Expert Review Green Albinism or congenital nystagmus Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Coloboma of optic nerve 120430 AD;Optic nerve hypoplasia 165550 AD;Aniridia 106210 AD;Cataract with late-onset corneal dystrophy 106210 AD;?Morning glory disc anomaly 120430 AD;Anterior segment dysgenesis 5, multiple subtypes 604229;Keratitis 148190 AD;Foveal hypoplasia 1 136520 AD;?Coloboma, ocular 120200 AD False 3 100;0;0 4.5 False ENSG00000007372 ENSG00000007372 HGNC:8620 RAB27A gene RAB27A Expert list;Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2 607624 AR False 3 100;0;0 4.5 False ENSG00000069974 ENSG00000069974 HGNC:9766 SACS gene SACS Expert list;Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type 270550 AR False 3 100;0;0 4.5 False ENSG00000151835 ENSG00000151835 HGNC:10519 SETX gene SETX Expert list;Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 False 3 100;0;0 4.5 False ENSG00000107290 ENSG00000107290 HGNC:445 SLC24A5 gene SLC24A5 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VI;Non-Syndromic Oculocutaneous Albinism 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism;27129268 - functional data to support the phenotypic effects of variants reported;23364476 - case report of patient of Chinese origin;26686029 case identified in a cohort South-Italian origin False 3 0;0;0 4.5 False ENSG00000188467 ENSG00000188467 HGNC:20611 SLC38A8 gene SLC38A8 Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218;foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 24290379;29345414;24045842;32744312 False 3 100;0;0 4.5 False ENSG00000166558 ENSG00000166558 HGNC:32434 SLC45A2 gene SLC45A2 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism type IV,606574;skin/hair/eye pigmentation 5,227240;Albinism, oculocutaneous, type IV;Oculocutaneous Albinism False 3 0;0;0 4.5 False ENSG00000164175 ENSG00000164175 HGNC:16472 TYR gene TYR Expert Review Green;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, OMIM:203100;Albinism, oculocutaneous, type IB, OMIM:606952;Waardenburg syndrome/albinism, digenic, OMIM:103470 False 3 0;0;0 4.5 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Green Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III;Oculocutaneous Albinism False 3 0;0;0 4.5 False ENSG00000107165 ENSG00000107165 HGNC:12450 AHR gene AHR Expert list;Expert Review Amber Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 85, OMIM:618345;retinitis pigmentosa 85, MONDO:0032689 28851966;23301081;29726989;31896775;31009037;33193710;35188035 False 2 0;100;0 4.5 False ENSG00000106546 ENSG00000106546 HGNC:348 AP3D1 gene AP3D1 Expert Review Amber;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Hermansky-Pudlak syndrome 10 617050 AR False 2 0;100;0 4.5 False ENSG00000065000 ENSG00000065000 HGNC:568 CLCN7 gene CLCN7 Expert Review Amber;Literature Albinism or congenital nystagmus Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 31155284 False 2 0;100;0 4.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 DTNBP1 gene DTNBP1 Expert Review Amber;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7 614076 AR False 2 0;100;0 4.5 False ENSG00000047579 ENSG00000047579 HGNC:17328 MANBA gene MANBA Expert Review Amber;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta 248510 AR False 2 0;100;0 4.5 False ENSG00000109323 ENSG00000109323 HGNC:6831 MLPH gene MLPH Expert Review Amber;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 3, OMIM:609227;Griscelli syndrome type 3, MONDO:0012220 12897212;21883982;22711375;26337734;30389201;31721180;35602484 False 2 50;50;0 4.5 False ENSG00000115648 ENSG00000115648 HGNC:29643 MYO5A gene MYO5A Expert Review Amber;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 1 214450 AR False 2 0;100;0 4.5 False ENSG00000197535 ENSG00000197535 HGNC:7602 TULP1 gene TULP1 Expert Review Amber;NHS GMS Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 15 613843 AR;Retinitis pigmentosa 14 600132 AR False 2 0;100;0 4.5 False ENSG00000112041 ENSG00000112041 HGNC:12423 DGUOK gene DGUOK Expert Review Red Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 12210798;12205643 False 1 0;0;0 4.5 False ENSG00000114956 ENSG00000114956 HGNC:2858 GNAI3 gene GNAI3 Expert Review Red Albinism or congenital nystagmus Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auriculocondylar syndrome 1 602483;Ocular Albinism 27607449 False 1 0;0;0 4.5 False ENSG00000065135 ENSG00000065135 HGNC:4387 MITF gene MITF Expert Review Red Albinism or congenital nystagmus Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A);Waardenburg syndrome/ocular albinism, digenic,103470;Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA) False 1 0;0;0 4.5 False ENSG00000187098 ENSG00000187098 HGNC:7105 MT-ATP6 gene MT-ATP6 Expert Review Red Albinism or congenital nystagmus Ophthalmology MITOCHONDRIAL Retinal degeneration and nystagmus;Optic neuropathy and nystagmus;Nystagmus 26448634 False 1 0;0;0 4.5 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-CO1 gene MT-CO1 Expert Review Red Albinism or congenital nystagmus Ophthalmology MITOCHONDRIAL Nystagmus;Optic neuropathy 26448634 False 1 0;0;0 4.5 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO3 gene MT-CO3 Expert Review Red Albinism or congenital nystagmus Ophthalmology MITOCHONDRIAL Nystagmus 26448634 False 1 0;0;0 4.5 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Red Albinism or congenital nystagmus Ophthalmology MITOCHONDRIAL Nystagmus 26448634 False 1 0;0;0 4.5 False ENSG00000198727 ENSG00000198727 HGNC:7427 MT-ND2 gene MT-ND2 Expert Review Red Albinism or congenital nystagmus Ophthalmology MITOCHONDRIAL Retinal degeneration and nystagmus 26448634 False 1 0;0;0 4.5 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND6 gene MT-ND6 Expert Review Red Albinism or congenital nystagmus Ophthalmology MITOCHONDRIAL Nystagmus 26448634 False 1 0;0;0 4.5 False ENSG00000198695 ENSG00000198695 HGNC:7462 ROBO1 gene ROBO1 Literature Albinism or congenital nystagmus Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Nystagmus 8, congenital, autosomal recessive, OMIM:257400 35348658 False 1 0;0;100 4.5 False ENSG00000169855 ENSG00000169855 HGNC:10249