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 ABCA4 gene ABCA4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Macular Dystrophy/Degeneration/Stargardt Disease;Stargardt disease 1, 248200;Macular Degeneration (Dominant); Stargardt Disease, Recessive;Retinitis pigmentosa 19, 601718;Cone-rod dystrophy 3, 604116;Macular degeneration, age-related, 2, 153800;Fundus flavimaculatus, 248200;Retinal dystrophy, early-onset severe, 248200;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200;Eye Disorders; Retinitis pigmentosa 19, 601718; Cone-rod dystrophy 3, 604116; Macular degeneration, age-related, 2, 153800; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200;Macular Degeneration;Stargardt Disease 1; STGD1 False 3 100;0;0 4.81 True ENSG00000198691 ENSG00000198691 HGNC:34 ABCC6 gene ABCC6 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum, OMIM:264800;inherited pseudoxanthoma elasticum, MONDO:0100091 False 3 100;0;0 4.81 False ENSG00000091262 ENSG00000091262 HGNC:57 ABHD12 gene ABHD12 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC);Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 False 3 100;0;0 4.81 True ENSG00000100997 ENSG00000100997 HGNC:15868 ACBD5 gene ACBD5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026 27799409;23105016;33427402 False 3 25;50;25 4.81 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACO2 gene ACO2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 34056600 False 3 50;50;0 4.81 True ENSG00000100412 ENSG00000100412 HGNC:118 ADAM9 gene ADAM9 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Cone-Rod Dystrophy, Recessive;Cone-rod dystrophy 9, 612775 False 3 100;0;0 4.81 True ENSG00000168615 ENSG00000168615 HGNC:216 ADAMTS18 gene ADAMTS18 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 False 3 100;0;0 4.81 True ENSG00000140873 ENSG00000140873 HGNC:17110 ADGRV1 gene ADGRV1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, 605472;Eye Disorders;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 3 100;0;0 4.81 False ENSG00000164199 ENSG00000164199 HGNC:17416 AFG3L2 gene AFG3L2 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977, MONDO:0033549;Spastic ataxia 5, autosomal recessive, OMIM:614487 29181157;26539208;30252181;30389403;32219868;32600459;32548275 False 3 50;50;0 4.81 False ENSG00000141385 ENSG00000141385 HGNC:315 AGBL5 gene AGBL5 Expert Review Green;NHS GMS;Other Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 75, 617023 26720455;26355662;27764769;27842159 False 3 50;0;50 4.81 False ENSG00000084693 ENSG00000084693 HGNC:26147 AHI1 gene AHI1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Joubert syndrome 3, 608629 False 3 100;0;0 4.81 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIPL1 gene AIPL1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cone-rod dystrophy, OMIM:604393;Retinitis pigmentosa, juvenile, OMIM:604393;Leber congenital amaurosis 4, OMIM:604393 26165328;31342828;10615133;10873396;15249368;21900377;33067476 False 3 100;0;0 4.81 True ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 False 3 100;0;0 4.81 False ENSG00000160224 ENSG00000160224 HGNC:360 ALDH3A2 gene ALDH3A2 Expert Review Green;Literature Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 25784589;29071827;29183715;31273323 False 3 100;0;0 4.81 False ENSG00000072210 ENSG00000072210 HGNC:403 ALMS1 gene ALMS1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Alstrom syndrome, 203800 False 3 100;0;0 4.81 True ENSG00000116127 ENSG00000116127 HGNC:428 ALPK1 gene ALPK1 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ROSAH syndrome, OMIM:614979 30967659;31939038;31053777;34159509;35868845 False 3 100;0;0 4.81 False ENSG00000073331 ENSG00000073331 HGNC:20917 AMACR gene AMACR Expert Review Green;Literature Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200;Alpha-methylacyl-CoA racemase deficiency, OMIM:614307 21686617;20821052;11861706;10655068;15249642;23286897 False 3 100;0;0 4.81 False Other ENSG00000242110 ENSG00000242110 HGNC:451 ARHGEF18 gene ARHGEF18 Expert Review Green;NHS GMS;Other Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 78 617433 28132693 False 3 100;0;0 4.81 False ENSG00000104880 ENSG00000104880 HGNC:17090 ARL13B gene ARL13B Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, OMIM:612291, MONDO:0012855 18674751;30573647;25138100;29255182 False 3 50;50;0 4.81 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL2BP gene ARL2BP Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without situs inversus, 615434 False 3 100;0;0 4.81 True ENSG00000102931 ENSG00000102931 HGNC:17146 ARL3 gene ARL3 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 35, OMIM:61816;cone-rod dystrophy, MONDO:0015993;Retinitis pigmentosa 83, OMIM:618173 30269812;16565502;33748123;31743939;26964041;30932721;34485303 False 3 100;0;0 4.81 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 3, 209900;{Bardet-Biedl syndrome 1, modifier of}, 209900;Retinitis pigmentosa 55, 613575;Retinitis Pigmentosa, Recessive False 3 100;0;0 4.81 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARSG gene ARSG Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV, OMIM:618144 32455177;33629623;29300381;33300174 False 3 75;25;0 4.81 False ENSG00000141337 ENSG00000141337 HGNC:24102 ATF6 gene ATF6 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 7, 616517 26063662;26029869 False 3 67;33;0 4.81 False ENSG00000118217 ENSG00000118217 HGNC:791 ATOH7 gene ATOH7 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Persistent hyperplastic primary vitreous, autosomal recessive, 221900;multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus "PMID: 22068589;PMID: 22068589;PMID: 26933893;PMID: 24689660;PMID: 24457358;PMID: 23802135 - not associated with optic nerve hypoplasia;PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous ""Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants"";PMID: 22584021;PMID: 21441919;PMID: 21398277;PMID: 21427129;PMID: 21307088;PMID: 20395239;PMID: 11889557" False 3 100;0;0 4.81 True ENSG00000179774 ENSG00000179774 HGNC:13907 BBS1 gene BBS1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 False 3 100;0;0 4.81 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 10, 615987 False 3 100;0;0 4.81 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 12, 615989 False 3 100;0;0 4.81 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 2, 615981;Retinitis pigmentosa 74, 616562 False 3 100;0;0 4.81 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 4, 615982 False 3 100;0;0 4.81 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 5, 615983 False 3 100;0;0 4.81 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 7, 615984 False 3 100;0;0 4.81 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 9, 615986 False 3 100;0;0 4.81 True ENSG00000122507 ENSG00000122507 HGNC:30000 BEST1 gene BEST1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220;Bestrophinopathy, autosomal recessive , OMIM:611809;Macular dystrophy, vitelliform, 2, OMIM:153700;Retinitis pigmentosa, concentric, OMIM:613194;Retinitis pigmentosa-50, OMIM:613194;Vitreoretinochoroidopathy, OMIM:193220" 18179881;34327816 False 3 100;0;0 4.81 True ENSG00000167995 ENSG00000167995 HGNC:12703 C1QTNF5 gene C1QTNF5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Eye Disorders;Retinal Degeneration;Retinitis pigmentosa;Retinal degeneration, late-onset, autosomal dominant, 605670 False 3 100;0;0 4.81 True ENSG00000223953 ENSG00000223953 HGNC:14344 C21orf2 gene C21orf2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with macular staphyloma, 617547 23105016;26294103;27548899 False 3 50;50;0 4.81 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2orf71 gene C2orf71 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa 54, 613428;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive False 3 100;0;0 4.81 True ENSG00000179270 ENSG00000179270 HGNC:34383 C8orf37 gene C8orf37 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308;Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786;Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 False 3 100;0;0 4.81 True ENSG00000156172 ENSG00000156172 HGNC:27232 CABP4 gene CABP4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone-rod synaptic disorder, congenital nonprogressive;Congenital Stationary Night Blindness;Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 False 3 100;0;0 4.81 True ENSG00000175544 ENSG00000175544 HGNC:1386 CACNA1F gene CACNA1F Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Achromatopsia, Cone, and Cone-rod Dystrophy;Congenital Stationary Night Blindness;Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071Cone-rod dystropy, X-linked, 3, 300476Aland Island eye disease, 300600 False 3 100;0;0 4.81 True ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D4 gene CACNA2D4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 4, 610478;Congenital Stationary Night Blindness;Achromatopsia, Cone, and Cone-rod Dystrophy 17033974;26560832 False 3 67;33;0 4.81 True ENSG00000151062 ENSG00000151062 HGNC:20202 CAPN5 gene CAPN5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 True ENSG00000149260 ENSG00000149260 HGNC:1482 CC2D2A gene CC2D2A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360;Joubert syndrome 9, 612285;Meckel syndrome 6, 612284;Eye Disorders False 3 100;0;0 4.81 True ENSG00000048342 ENSG00000048342 HGNC:29253 CDH23 gene CDH23 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280;i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280;Macular Dystrophy/Degeneration/Stargardt Disease;Eye Disorders False 3 100;0;0 4.81 True ENSG00000062038 ENSG00000062038 HGNC:1762 CDHR1 gene CDHR1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Cone-Rod Dystrophy, Recessive;Cone-rod dystrophy 15, 613660;Retinitis pigmentosa 65, 613660 False 3 100;0;0 4.81 True ENSG00000148600 ENSG00000148600 HGNC:14550 CEP164 gene CEP164 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP250 gene CEP250 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 24780881;29718797;30459346 False 3 50;50;0 4.81 False ENSG00000126001 ENSG00000126001 HGNC:1859 CEP290 gene CEP290 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Bardet-Biedl syndrome 14 (AR); Joubert syndrome 5 (AR); Leber congenital amaurosis 10 (AR); Meckel syndrome type 4 (AR); Senior-Loken syndrome 6 (AR);Leber congenital amaurosis type 10;Joubert syndrome 5, 610188;Senior-Loken syndrome 6, 610189;Leber congenital amaurosis 10, 611755;Meckel syndrome 4, 611134;Bardet-Biedl syndrome 14, 209900;Leber Congenital Amaurosis;Eye Disorders 17345604 False 3 100;0;0 4.81 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP78 gene CEP78 Expert Review Green;NHS GMS;Other Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-Rod Dystrophy and Hearing Loss; CRDHL; OMIM: 617236 28005958;27588451;27588452;27627988 False 3 100;0;0 4.81 False ENSG00000148019 ENSG00000148019 HGNC:25740 CERKL gene CERKL Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 26, RP26 (AR);Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 26, 608380 False 3 100;0;0 4.81 False ENSG00000188452 ENSG00000188452 HGNC:21699 CFH gene CFH Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Macular degeneration, age-related, 4} 610698;Basal laminar drusen, 126700 False 3 100;0;0 4.81 False ENSG00000000971 ENSG00000000971 HGNC:4883 CHM gene CHM Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Choroideremia;Eye Disorders;Retinitis pigmentosa;Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) False 3 100;0;0 4.81 True ENSG00000188419 ENSG00000188419 HGNC:1940 CLN3 gene CLN3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 False 3 100;0;0 4.81 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 6 601780 False 3 100;0;0 4.81 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 8, 600143 False 3 100;0;0 4.81 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLRN1 gene CLRN1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;?Usher syndrome, type 3A, 276902;Retinitis pigmentosa 61, 614180 False 3 100;0;0 4.81 True ENSG00000163646 ENSG00000163646 HGNC:12605 CNGA1 gene CNGA1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 49, OMIM:613756 15570217;25268133;30652268;36115851 False 3 100;0;0 4.81 True ENSG00000198515 ENSG00000198515 HGNC:2148 CNGA3 gene CNGA3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia;Achromatopsia-2, 216900;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 4.81 True ENSG00000144191 ENSG00000144191 HGNC:2150 CNGB1 gene CNGB1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 45, RP45 (AR);Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 45, 613767 False 3 100;0;0 4.81 True ENSG00000070729 ENSG00000070729 HGNC:2151 CNGB3 gene CNGB3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3, OMIM:262300;Macular degeneration, juvenile False 3 100;0;0 4.81 True ENSG00000170289 ENSG00000170289 HGNC:2153 CNNM4 gene CNNM4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Jalili syndrome False 3 100;0;0 4.81 True ENSG00000158158 ENSG00000158158 HGNC:105 COL11A1 gene COL11A1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type II, OMIM:604841;Marshall syndrome, OMIM:154780 10486316;17318849 False 3 67;0;33 4.81 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL18A1 gene COL18A1 BRIDGE consortium (NIHRBR-RD);Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, OMIM:267750 19160445;28602933;28950998;10942434;30007336;19160445;18484314;12415512;19160445;28602933;28950998 False 3 100;0;0 4.81 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL2A1 gene COL2A1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450;Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248;Kniest dysplasia, OMIM:156550;SED congenita, OMIM:183900;Stickler syndrome, type I, OMIM:108300;Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508 32867104;9091360;30130436 False 3 80;0;20 4.81 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Eye Disorders False 3 100;0;0 4.81 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A1 gene COL9A1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134 16909383;21421862 False 3 67;0;33 4.81 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, OMIM:614284 21671392;31090205;33356723 False 3 67;0;33 4.81 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type VI, OMIM:620022 30450842;33570243;33633367 False 3 100;0;0 4.81 False ENSG00000092758 ENSG00000092758 HGNC:2219 COQ2 gene COQ2 Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426;coenzyme Q10 deficiency, primary, 1, MONDO:0011829 36266294 False 3 100;0;0 4.81 False ENSG00000173085 ENSG00000173085 HGNC:25223 CRB1 gene CRB1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis, OMIM:613835;Retinitis pigmentosa-12, OMIM:600105 False 3 100;0;0 4.81 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod retinal dystrophy -2; Leber congenital amaurosis 7;Leber Congenital Amaurosis;Cone-rod retinal dystrophy-2, 120970;Leber congenital amaurosis 7, 613829;CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7;Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa False 3 100;0;0 4.81 False ENSG00000105392 ENSG00000105392 HGNC:2383 CSPP1 gene CSPP1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Joubert syndrome 21,615636 False 3 100;0;0 4.81 True ENSG00000104218 ENSG00000104218 HGNC:26193 CTC1 gene CTC1 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 22267198 False 3 100;0;0 4.81 False ENSG00000178971 ENSG00000178971 HGNC:26169 CTNNA1 gene CTNNA1 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, patterned, 2, OMIM:608970;exudative vitreoretinopathy, MONDO:0019516 26691986;33497368;33137351 False 3 67;33;0 4.81 False ENSG00000044115 ENSG00000044115 HGNC:2509 CTNNB1 gene CTNNB1 Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exudative vitreoretinopathy 7, OMIM:617572 28575650;28514307;35361685 False 3 100;0;0 4.81 False ENSG00000168036 ENSG00000168036 HGNC:2514 CTSD gene CTSD Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 10, 610127 False 3 100;0;0 4.81 False ENSG00000117984 ENSG00000117984 HGNC:2529 CWC27 gene CWC27 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, 250410 28285769;34726245 False 3 100;0;0 4.81 False ENSG00000153015 ENSG00000153015 HGNC:10664 CYP4V2 gene CYP4V2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bietti crystalline corneoretinal dystrophy, 210370;Eye Disorders;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000145476 ENSG00000145476 HGNC:23198 DHDDS gene DHDDS Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861 False 3 100;0;0 4.81 True ENSG00000117682 ENSG00000117682 HGNC:20603 DRAM2 gene DRAM2 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 21, 616502;macular dystrophy;cone-dystrophy 25983245;26720460;31394102 False 3 50;50;0 4.81 False ENSG00000156171 ENSG00000156171 HGNC:28769 EFEMP1 gene EFEMP1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Doyne honeycomb degeneration of retina, OMIM:126600 False 3 100;0;0 4.81 True ENSG00000115380 ENSG00000115380 HGNC:3218 ELOVL4 gene ELOVL4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, autosomal dominant, chromosome 6-linked; Stargardt disease 3;Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457;Stargardt Disease, Dominant;Stargardt disease 3, 600110; Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457;Macular Dystrophy/Degeneration/Stargardt Disease;Eye Disorders False 3 100;0;0 4.81 True ENSG00000118402 ENSG00000118402 HGNC:14415 ERCC6 gene ERCC6 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, OMIM:133540 False 3 100;0;0 4.81 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cockayne syndrome, type A 216400" False 3 100;0;0 4.81 True ENSG00000049167 ENSG00000049167 HGNC:3439 EYS gene EYS Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 25, OMIM:602772 18836446;18976725;35710107 False 3 100;0;0 4.81 True ENSG00000188107 ENSG00000188107 HGNC:21555 FAM161A gene FAM161A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa 28, 606068;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive False 3 100;0;0 4.81 True ENSG00000170264 ENSG00000170264 HGNC:25808 FAM57B gene FAM57B Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy, MONDO:0015993;Maculopathy 28041643;33077892 False 3 33;0;67 4.81 False ENSG00000149926 ENSG00000149926 HGNC:25295 FLVCR1 gene FLVCR1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Posterior Column Ataxia with Retinitis Pigmentosa;Ataxia, posterior column, with retinitis pigmentosa, 609033;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000162769 ENSG00000162769 HGNC:24682 FZD4 gene FZD4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Eye Disorders False 3 100;0;0 4.81 False ENSG00000174804 ENSG00000174804 HGNC:4042 GNAT1 gene GNAT1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary, autosomal dominant 3, 610444 False 3 100;0;0 4.81 False ENSG00000114349 ENSG00000114349 HGNC:4393 GNAT2 gene GNAT2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia;Achromatopsia-4;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 4.81 True ENSG00000134183 ENSG00000134183 HGNC:4394 GNB3 gene GNB3 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary, type 1H, OMIM:617024, MONDO:0014872 27063057;17065478 False 3 50;50;0 4.81 False ENSG00000111664 ENSG00000111664 HGNC:4400 GNPTG gene GNPTG Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Mucolipidosis III gamma False 3 100;0;0 4.81 False ENSG00000090581 ENSG00000090581 HGNC:23026 GPR143 gene GPR143 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental macular and foveal dystrophy (foveal hypoplasia in the context of albinism);Eye Disorders;Ocular albinism, type I;Nystagmus;Nystagmus 6, congenital, X-linked, 300814;Ocular albinism, type I, Nettleship-Falls type, 300500 26160353;26061757;21423867;21541274;11793467;8634705;19390656 False 3 100;0;0 4.81 False ENSG00000101850 ENSG00000101850 HGNC:20145 GPR179 gene GPR179 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 False 3 100;0;0 4.81 True ENSG00000188888 ENSG00000277399 HGNC:31371 GRK1 gene GRK1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease-2, 613411 False 3 100;0;0 4.81 False ENSG00000185974 ENSG00000185974 HGNC:10013 GRM6 gene GRM6 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 False 3 100;0;0 4.81 True ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM:614706;neuronal ceroid lipofuscinosis 1, MONDO:0013866 31855245;28404863;30922528 False 3 50;0;50 4.81 False ENSG00000030582 ENSG00000030582 HGNC:4601 GUCA1A gene GUCA1A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone dystrophy-3, 602093;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 4.81 True ENSG00000048545 ENSG00000048545 HGNC:4678 GUCA1B gene GUCA1B Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Dystrophy/Degeneration/Stargardt Disease;Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 48, 613827 15452722;21405999 False 3 100;0;0 4.81 False ENSG00000112599 ENSG00000112599 HGNC:4679 GUCY2D gene GUCY2D Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone-rod dystrophy 6 (AD); Leber congenital amaurosis 1 (AR);Leber congenital amaurosis 1, 204000;Eye Disorders;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000132518 ENSG00000132518 HGNC:4689 HCCS gene HCCS Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Eye Disorders;Linear skin defects with multiple congenital anomalies 1, 309801 False 3 100;0;0 4.81 False ENSG00000004961 ENSG00000004961 HGNC:4837 HGSNAT gene HGSNAT Expert Review Green;NHS GMS;Other Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 73 25859010 False 3 100;0;0 4.81 False ENSG00000165102 ENSG00000165102 HGNC:26527 HK1 gene HK1 Expert Review Green;NHS GMS;Other Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 79, OMIM:617460;Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 25190649;25316723;31621442;32814480;30778173 False 3 50;50;0 4.81 False ENSG00000156515 ENSG00000156515 HGNC:4922 HMX1 gene HMX1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 4.81 True ENSG00000215612 ENSG00000215612 HGNC:5017 IDH3A gene IDH3A Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, OMIM:619007;retinitis pigmentosa 90, MONDO:0033563 31012789;30478029;30058936;28412069;28058510 False 3 100;0;0 4.81 False ENSG00000166411 ENSG00000166411 HGNC:5384 IDH3B gene IDH3B Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa 46, 612572;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive False 3 100;0;0 4.81 True ENSG00000101365 ENSG00000101365 HGNC:5385 IFT140 gene IFT140 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618 25168386;29659833 False 3 50;50;0 4.81 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183;29588463 False 3 67;33;0 4.81 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, OMIM:617119 27486776;32144365 False 3 100;0;0 4.81 False ENSG00000096872 ENSG00000096872 HGNC:21424 IKBKG gene IKBKG Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, 308300 False 3 100;0;0 4.81 False ENSG00000073009 ENSG00000269335 HGNC:5961 IMPDH1 gene IMPDH1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leber congenital amaurosis 11; Retinitis pigmentosa 10;Retinitis pigmentosa 10, 180105;Leber Congenital Amaurosis;Leber congenital amaurosis 11;Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000106348 ENSG00000106348 HGNC:6052 IMPG1 gene IMPG1 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Macular dystrophy, vitelliform, 4, OMIM:616151;Retinitis pigmentosa, MONDO:0019200 23993198;28644393;30589393;30688845;32817297 False 3 100;0;0 4.81 False ENSG00000112706 ENSG00000112706 HGNC:6055 IMPG2 gene IMPG2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Maculopathy, IMPG2 - related; Retinitis pigmentosa 56;Eye Disorders;Retinitis pigmentosa;Retinitis pigmentosa 56, 613581;Retinitis Pigmentosa, Recessive False 3 100;0;0 4.81 True ENSG00000081148 ENSG00000081148 HGNC:18362 INPP5E gene INPP5E Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions Review of the literature from Stephanie Barton (Manchester) - L Bielas et al (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41:1032-1036;Wang et al (2015) Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.Invest Ophthalmol Vis Sci. Jun;56(6):3642-55;Travaglini et al (2013) Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. Oct;21(10):1074-8- Several other papers on HGMD. False 3 100;0;0 4.81 True ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis);Leber congenital amaurosis;Eye Disorders False 3 100;0;0 4.81 True ENSG00000173226 ENSG00000173226 HGNC:28949 KCNJ13 gene KCNJ13 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 16, 614186;Leber Congenital Amaurosis;Eye Disorders;Snowflake vitreoretinal degeneration, 193230 False 3 100;0;0 4.81 False ENSG00000115474 ENSG00000115474 HGNC:6259 KCNV2 gene KCNV2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal Cone Dystrophy;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 4.81 True ENSG00000168263 ENSG00000168263 HGNC:19698 KIAA1549 gene KIAA1549 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal No OMIM phenotype 23105016;24938718;30120214 False 3 50;0;50 4.81 False ENSG00000122778 ENSG00000122778 HGNC:22219 KIF11 gene KIF11 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIZ gene KIZ Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 69, 615780;HP:0000556;HP:0000510 31556760;29057815;28837078;24680887 False 3 50;50;0 4.81 False ENSG00000088970 ENSG00000088970 HGNC:15865 KLHL7 gene KLHL7 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 42;Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 42, 612943 False 3 100;0;0 4.81 True ENSG00000122550 ENSG00000122550 HGNC:15646 LAMA1 gene LAMA1 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, OMIM:615960 25105227;28283601;33251915;29167897;328840387;32195884 False 3 50;50;0 4.81 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMP2 gene LAMP2 Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pigmentary retinopathy;Danon disease, OMIM:300257 16751040;22290069;26398689;32533651;32890081;36288619 False 3 100;0;0 4.81 False Other ENSG00000005893 ENSG00000005893 HGNC:6501 LCA5 gene LCA5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 5;Leber Congenital Amaurosis;Leber congenital amaurosis 5, 604537;Eye Disorders;Leber congenital amaurosis 5 False 3 100;0;0 4.81 True ENSG00000135338 ENSG00000135338 HGNC:31923 LRAT gene LRAT Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 14; Retinal dystrophy, early - onset severe; Retinitis pigmentosa, juvenile;Leber Congenital Amaurosis;Retinal dystrophy, early-onset severe, 613341;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Eye Disorders False 3 100;0;0 4.81 True ENSG00000121207 ENSG00000121207 HGNC:6685 LRIT3 gene LRIT3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Congenital Stationary Night Blindness, Recessive;Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 PMID: 23246293 False 3 100;0;0 4.81 True ENSG00000183423 ENSG00000183423 HGNC:24783 LRP2 gene LRP2 BRIDGE consortium (NIHRBR-RD);Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome 222448 25682901;29388841;17632512 False 3 100;0;0 4.81 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP5 gene LRP5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eye Disorders;Exudative vitreoretinopathy 4 False 3 100;0;0 4.81 True ENSG00000162337 ENSG00000162337 HGNC:6697 LZTFL1 gene LZTFL1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 17 False 3 100;0;0 4.81 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAK gene MAK Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa 62, 614181;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive PMID: 26894652;25385675;25255364;22110072;21835304;21825139;21148103 False 3 100;0;0 4.81 True ENSG00000111837 ENSG00000111837 HGNC:6816 MED12 gene MED12 Expert Review Green;Literature Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hardikar syndrome, OMIM:612726;cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 33244166 False 3 100;0;0 4.81 False ENSG00000184634 ENSG00000184634 HGNC:11957 MERTK gene MERTK Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 38;childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosis; Retinitis pigmentosa 38;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 38, 613862 False 3 100;0;0 4.81 True ENSG00000153208 ENSG00000153208 HGNC:7027 MFRP gene MFRP Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000235718 ENSG00000235718 HGNC:18121 MFSD8 gene MFSD8 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170;Eye Disorders 28586915;25227500 False 3 100;0;0 4.81 False ENSG00000164073 ENSG00000164073 HGNC:28486 MKKS gene MKKS Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184 28481040;18848477;11320193;16714133;16311595;25687216 False 3 100;0;0 4.81 False ENSG00000132763 ENSG00000132763 HGNC:24525 MSTO1 gene MSTO1 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675 29339779;28544275;31604776;31130378;28554942;37431817 False 3 100;0;0 4.81 False ENSG00000125459 ENSG00000125459 HGNC:29678 MTTP gene MTTP Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, OMIM:200100, MONDO:0008692 False 3 50;50;0 4.81 False ENSG00000138823 ENSG00000138823 HGNC:7467 MYO7A gene MYO7A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1B, OMIM:276900 False 3 100;0;0 4.81 True ENSG00000137474 ENSG00000137474 HGNC:7606 NDP gene NDP Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Eye Disorders False 3 100;0;0 4.81 True ENSG00000124479 ENSG00000124479 HGNC:7678 NEUROD1 gene NEUROD1 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Retinopathy;Permanent neonatal diabetes 25477324;25684977;22784109;29521454 False 3 50;50;0 4.81 False ENSG00000162992 ENSG00000162992 HGNC:7762 NMNAT1 gene NMNAT1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 9, 608553 28369829 False 3 100;0;0 4.81 True ENSG00000173614 ENSG00000173614 HGNC:17877 NPHP1 gene NPHP1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders 34415307 False 3 100;0;0 4.81 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders Publications in OMIM;homozygous and compound heterozygous mutations in patients with Meckel syndrome. Multiple publications on HGMD of both missense and loss of function mutations in patients with nephronophthisis. Paper by Olbrich et al 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Nat Genet. 2003 Aug;34(4):455-9. Omran et al (2002) Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.J. Am. Soc. Nephrol. 13: 75-79;NPHP3 mutations have been linked to Senior-Loken syndrome, which involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis. False 3 50;50;0 4.81 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000131697 ENSG00000131697 HGNC:19104 NR2E3 gene NR2E3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR);Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Enhanced S-cone syndrome, 268100 False 3 100;0;0 4.81 True ENSG00000031544 ENSG00000278570 HGNC:7974 NRL gene NRL Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinal degeneration, autosomal recessive, clumped pigment type (AR);Retinitis pigmentosa 27, OMIM:613750 False 3 100;0;0 4.81 True ENSG00000129535 ENSG00000129535 HGNC:8002 NYX gene NYX Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital Stationary Night Blindness;Congenital Stationary Night Blindness, X-linked;Night blindness, congenital stationary (complete), 1A, X-linked, 310500 False 3 100;0;0 4.81 True ENSG00000188937 ENSG00000188937 HGNC:8082 OAT gene OAT Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000065154 ENSG00000065154 HGNC:8091 OFD1 gene OFD1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Joubert syndrome 10;Eye Disorders;?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000046651 ENSG00000046651 HGNC:2567 OPN1LW gene OPN1LW Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy, 303700 8213841;8666378;15094734;8792812 False 3 100;0;0 4.81 False ENSG00000102076 ENSG00000102076 HGNC:9936 OPN1MW gene OPN1MW Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy, 303700 False 3 100;0;0 4.81 False ENSG00000147380 ENSG00000268221 HGNC:4206 OTX2 gene OTX2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 5, 610125;early onset retinal dystrophy;autosomal-dominant pattern dystrophy of the retinal pigment epithelium;Retinal Dystrophy;Eye Disorders False 3 100;0;0 4.81 True ENSG00000165588 ENSG00000165588 HGNC:8522 P3H2 gene P3H2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670 21885030;24172257;25469533 False 3 50;50;0 4.81 False ENSG00000090530 ENSG00000090530 HGNC:19317 PANK2 gene PANK2 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal HARP syndrome; Neurodegeneration with brain iron accumulation 1 False 3 100;0;0 4.81 False ENSG00000125779 ENSG00000125779 HGNC:15894 PAX2 gene PAX2 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Papillorenal syndrome, OMIM:120330;renal coloboma syndrome, MONDO:0007352 22213154 False 3 50;50;0 4.81 False ENSG00000075891 ENSG00000075891 HGNC:8616 PCDH15 gene PCDH15 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome Type 1F;non-syndromic deafness;Usher syndrome, type 1D/F digenic;Eye Disorders Several mutations reported on HGMD in patients with Usher syndrome Type 1 and also non-syndromic deafness. False 3 100;0;0 4.81 False ENSG00000150275 ENSG00000150275 HGNC:14674 PCYT1A gene PCYT1A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy False 3 33;67;0 4.81 True ENSG00000161217 ENSG00000161217 HGNC:8754 PDE6A gene PDE6A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 43;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 43, 613810 False 3 100;0;0 4.81 True ENSG00000132915 ENSG00000132915 HGNC:8785 PDE6B gene PDE6B Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Night blindness, congenital stationary, autosomal dominant 2; Retinitis pigmentosa 40;Congenital Stationary Night Blindness, Dominant;Congenital Stationary Night Blindness;Night blindness, congenital stationary, autosomal dominant 2, 163500;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive 35075486 False 3 100;0;0 4.81 True ENSG00000133256 ENSG00000133256 HGNC:8786 PDE6C gene PDE6C Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia;Cone dystrophy 4;Eye Disorders;Cone-Rod Dystrophy, Recessive;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 4.81 True ENSG00000095464 ENSG00000095464 HGNC:8787 PDE6G gene PDE6G Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 57, 613582 False 3 100;0;0 4.81 True ENSG00000185527 ENSG00000185527 HGNC:8789 PDSS1 gene PDSS1 Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, OMIM:614651;deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837 36266294 False 3 100;0;0 4.81 False ENSG00000148459 ENSG00000148459 HGNC:17759 PEX1 gene PEX1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX2 gene PEX2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX6 gene PEX6 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heimler syndrome 2, OMIM:616617;MONDO:0014709;Peroxisome biogenesis disorder 4B, OMIM:614863 27302843;32866347;31884617;29676688;26387595;29220678;22871920;21937992 False 3 100;0;0 4.81 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Refsum disease False 3 100;0;0 4.81 True ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Refsum disease False 3 100;0;0 4.81 True ENSG00000107537 ENSG00000107537 HGNC:8940 PLA2G5 gene PLA2G5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 False ENSG00000127472 ENSG00000127472 HGNC:9038 PLK4 gene PLK4 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171;microcephaly and chorioretinopathy 2, MONDO:0014516 25344692;25320347;27650967 False 3 50;50;0 4.81 False ENSG00000142731 ENSG00000142731 HGNC:11397 PNPLA6 gene PNPLA6 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Boucher-Neuhauser syndrome, OMIM:215470;Oliver-McFarlane syndrome, OMIM:275400;?Laurence-Moon syndrome, OMIM:245800 24355708;25033069 False 3 50;50;0 4.81 False ENSG00000032444 ENSG00000032444 HGNC:16268 POC1B gene POC1B Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 25018096;24945461 False 3 100;0;0 4.81 False ENSG00000139323 ENSG00000139323 HGNC:30836 POMGNT1 gene POMGNT1 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 76, OMIM:617123, MONDO:0014929 27391550;26908613 False 3 50;50;0 4.81 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, MONDO:0009364;muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, MONDO:0013159 16575835;31311558;16887026 False 3 100;0;0 4.81 False ENSG00000130714 ENSG00000130714 HGNC:9202 PPT1 gene PPT1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 1, 256730 False 3 100;0;0 4.81 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRCD gene PRCD Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 36, 610599 False 3 100;0;0 4.81 True ENSG00000214140 ENSG00000214140 HGNC:32528 PRDM13 gene PRDM13 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown North Carolina macular dystrophy, MONDO:0007630 29258872;28973654;26507665;30710461 False 3 50;50;0 4.81 False Other ENSG00000112238 ENSG00000112238 HGNC:13998 PROM1 gene PROM1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone - rod dystrophy 12; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Stargardt disease 4;Retinal Macular Dystrophy;Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657; Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051;Stargardt Disease, Dominant;Macular Dystrophy/Degeneration/Stargardt Disease;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive; Cone-Rod Dystrophy, Dominant; Retinitis pigmentosa 41, 612095 False 3 100;0;0 4.81 True ENSG00000007062 ENSG00000007062 HGNC:9454 PRPF3 gene PRPF3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 18;Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 18 False 3 100;0;0 4.81 True ENSG00000117360 ENSG00000117360 HGNC:17348 PRPF31 gene PRPF31 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 11;Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 11, 600138 False 3 100;0;0 4.81 True ENSG00000105618 ENSG00000105618 HGNC:15446 PRPF4 gene PRPF4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 70 False 3 100;0;0 4.81 True ENSG00000136875 ENSG00000136875 HGNC:17349 PRPF6 gene PRPF6 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 60, OMIM:613983;retinitis pigmentosa 60, MONDO:0013516 21549338;32335390;31456290 False 3 67;33;0 4.81 True ENSG00000101161 ENSG00000101161 HGNC:15860 PRPF8 gene PRPF8 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 13;Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 13, 600059 False 3 100;0;0 4.81 True ENSG00000174231 ENSG00000174231 HGNC:17340 PRPH2 gene PRPH2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 100;0;0 4.81 True ENSG00000112619 ENSG00000112619 HGNC:9942 PRPS1 gene PRPS1 Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) retinal dystrophy 28967191 False 3 100;0;0 4.81 False ENSG00000147224 ENSG00000147224 HGNC:9462 RAB28 gene RAB28 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 18, 615374 False 3 100;0;0 4.81 True ENSG00000157869 ENSG00000157869 HGNC:9768 RAX2 gene RAX2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 11, OMIM:610381;Retinitis pigmentosa 95, OMIM:620102;?Macular degeneration, age-related, 6, OMIM:613757 30377383;30607024 False 3 100;0;0 4.81 False ENSG00000173976 ENSG00000173976 HGNC:18286 RBP3 gene RBP3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa;?Retinitis pigmentosa 66, 615233 Review of the literature from Stephanie Barton - Arno et al (2015) Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Invest Ophthalmol Vis Sci. Apr;56(4):2358-65: Two novel homozygous nonsense mutations (c.1530T>A;p.Y510* and c.3454G>T;p.E1152*) in RBP3 were identified in four patients from two families. All four patients had a similar, unusual retinal dystrophy characterized by childhood onset high myopia, generalized rod and cone dysfunction, and an unremarkable fundus appearance. The FAF imaging showed multiple paracentral foci of low autofluorescence in one patient and patchy increased FAF in the region of the vascular arcades in another. The OCT showed loss of outer retinal bands over peripheral macular areas in all 4 cases;Abu-Safieh et al (2013) Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. Feb;23(2):236-47;NM_002900.2 RBP3 :c.1162C>T;p.(Arg388*) identified in homozygous state in patient with sporadic RP;Li et al (2013) Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). J Biol Chem. Apr 19;288(16):11395-406: Functional studies to assess pathogenicity of a missense change, D1080N, that was identified in a homozygous state in a patient with ARRP by Den Hollander et al 2009. The mutation abolished IRBP secretion and induced endoplasmic reticulum stress by forming insoluble IRBP-containing complexes via disulfide bonds. Conclude that Loss of normal function and gain of cytotoxic function are the likely mechanisms for retinal degeneration. False 3 50;50;0 4.81 True ENSG00000107618 ENSG00000265203 HGNC:9921 RBP4 gene RBP4 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Macular Dystrophy/Degeneration/Stargardt Disease;Congenital Stationary Night Blindness;Retinitis pigmentosa False 3 100;0;0 4.81 False ENSG00000138207 ENSG00000138207 HGNC:9922 RCBTB1 gene RCBTB1 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial exudative vitreoretinopathy;Coats disease;Retinal dystrophy with or without extraocular anomalies, OMIM:617175 26908610;27486781 False 3 100;0;0 4.81 True ENSG00000136144 ENSG00000136144 HGNC:18243 RD3 gene RD3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis;Leber congenital amaurosis 12, 610612;Eye Disorders False 3 100;0;0 4.81 True ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 13;Macular Dystrophy/Degeneration/Stargardt Disease;Leber congenital amaurosis 13, 612712;Eye Disorders;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 31505163 False 3 100;0;0 4.81 True ENSG00000139988 ENSG00000139988 HGNC:19977 RDH5 gene RDH5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Congenital Stationary Night Blindness;Fundus albipunctatus, 136880;Fundus albipunctatus 21529959;34726233 False 3 100;0;0 4.81 False ENSG00000135437 ENSG00000135437 HGNC:9940 REEP6 gene REEP6 Expert Review Green;Literature;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa;Retinitis pigmentosa 77, 617304 30101608;28475715;28369466;27889058;24691551 False 3 100;0;0 4.81 False ENSG00000115255 ENSG00000115255 HGNC:30078 RGR gene RGR Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 44, OMIM:613769;Retinitis pigmentosa 44, MONDO:0013414 False 3 75;25;0 4.81 True ENSG00000148604 ENSG00000148604 HGNC:9990 RGS9 gene RGS9 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders False 3 100;0;0 4.81 True ENSG00000108370 ENSG00000108370 HGNC:10004 RHO gene RHO Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Night blindness, congenital stationary autosomal dominant 1; Retinitis pigmentosa; Retinitis punctata albescens;Congenital Stationary Night Blindness;Retinitis pigmentosa 4, autosomal dominant or recessive, 613731;Retinitis Pigmentosa, Dominant/Recessive;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000163914 ENSG00000163914 HGNC:10012 RIMS2 gene RIMS2 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970 32470375 False 3 100;0;0 4.81 False ENSG00000176406 ENSG00000176406 HGNC:17283 RLBP1 gene RLBP1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bothnia retinal dystrophy; Fundus albipunctatus; Newfoundland rod - cone dystrophy; Retinitis punctata albescens;Fundus albipunctatus, 136880;Fundus Albipunctatus;Eye Disorders;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000140522 ENSG00000140522 HGNC:10024 RNU4ATAC gene RNU4ATAC Expert Review;Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome, OMIM:226960;Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710;Roifman syndrome, OMIM:616651 2801768;29265708;30368667 False 3 100;0;0 4.81 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROM1 gene ROM1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 7, digenic, OMIM:608133 8595413;32716032;32036094;8202715;30630813;24618324;20300562 False 3 33;33;33 4.81 False ENSG00000149489 ENSG00000149489 HGNC:10254 RP1 gene RP1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 1;Eye Disorders;Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;rod-cone dystrophy 25692139;8931712;10391211;15863674 False 3 100;0;0 4.81 True ENSG00000104237 ENSG00000104237 HGNC:10263 RP1L1 gene RP1L1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Occult macular dystrophy, OMIM:613587 (AD);Retinitis pigmentosa 88, OMIM:618826 (AR) 23281133;20826268 False 3 0;100;0 4.81 True ENSG00000183638 ENSG00000183638 HGNC:15946 RP2 gene RP2 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 2;RP2-related X-linked Retinitis Pigmentosa;Eye Disorders;Retinitis pigmentosa;Retinitis pigmentosa 2, 312600;Retinitis Pigmentosa, X-linked False 3 100;0;0 4.81 True ENSG00000102218 ENSG00000102218 HGNC:10274 RP9 gene RP9 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 9, 180104 False 3 50;50;0 4.81 False ENSG00000164610 ENSG00000164610 HGNC:10288 RPE65 gene RPE65 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 2, OMIM:204100 (AR);Retinitis pigmentosa 20, OMIM:613794 (AR);Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD) 12960219;15557452;21654732;27307694;29947567 False 3 100;0;0 4.81 True ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Achromatopsia, Cone, and Cone-rod Dystrophy;Cone - rod dystrophy - 1; Macular degeneration, X - linked atrophic; Retinitis pigmentosa 3; Retinitis pigmentosa, X -linked, and sinorespiratory infections, with or without deafness;Retinitis pigmentosa 3, 300029Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455Macular degeneration, X-linked atrophic, 300834Cone-rod dystrophy, X-linked, 1, 304020;Retinitis pigmentosa 3, 300029; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020;Macular Dystrophy/Degeneration/Stargardt Disease; RPGR-related X-linked Retinitis Pigmentosa;Eye Disorders;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone - rod dystrophy 13; Leber congenital amaurosis 6; ;Macular Dystrophy/Degeneration/Stargardt Disease;Leber Congenital Amaurosis;Leber congenital amaurosis 6, 613826;Eye Disorders;Retinitis pigmentosa;Cone-Rod Dystrophy, Recessive;Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194 False 3 100;0;0 4.81 True ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome; Joubert syndrome 7; Meckel syndrome 5;Eye Disorders False 3 100;0;0 4.81 True ENSG00000103494 ENSG00000103494 HGNC:29168 RS1 gene RS1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental macular and foveal dystrophy (males with foveal schisis); Eye Disorders False 3 100;0;0 4.81 True ENSG00000102104 ENSG00000102104 HGNC:10457 SAG gene SAG Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease - 1; Retinitis pigmentosa 47;Oguchi Disease;Congenital Stationary Night Blindness;Oguchi disease-1, 258100;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa False 3 100;0;0 4.81 False ENSG00000130561 ENSG00000130561 HGNC:10521 SCAPER gene SCAPER Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism;Intellectual developmental disorder and retinitis pigmentosa, 618195 21937992;28794130;28041643 False 3 100;0;0 4.81 False ENSG00000140386 ENSG00000140386 HGNC:13081 SDCCAG8 gene SDCCAG8 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000054282 ENSG00000054282 HGNC:10671 SGSH gene SGSH Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, HP:0000556;retinitis pigmentosa, MONDO:0019200 31718697;32195255 False 3 100;0;0 4.81 False Other ENSG00000181523 ENSG00000181523 HGNC:10818 SLC24A1 gene SLC24A1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 False 3 100;0;0 4.81 True ENSG00000074621 ENSG00000074621 HGNC:10975 SLC38A8 gene SLC38A8 Expert Review Green;Literature;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders 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;chiasmal misrouting 24290379;24045842;15466012;24290379;24045842;32744312 False 3 100;0;0 4.81 False ENSG00000166558 ENSG00000166558 HGNC:32434 SLC6A6 gene SLC6A6 Expert Review Green;Literature Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Early retinal degeneration;cardiomyopathy 31345061;31903486;29886034;17875433 False 3 0;100;0 4.81 False ENSG00000131389 ENSG00000131389 HGNC:11052 SNRNP200 gene SNRNP200 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 33, 610359 False 3 100;0;0 4.81 True ENSG00000144028 ENSG00000144028 HGNC:30859 SPATA7 gene SPATA7 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 3; Retinitis pigmentosa, juvenile, autosomal recessive;Leber Congenital Amaurosis;Leber congenital amaurosis 3, 604232;Retinitis pigmentosa, juvenile, autosomal recessive;Eye Disorders;Leber congenital amaurosis 3, 604232Retinitis pigmentosa, juvenile, autosomal recessive, 604232;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000042317 ENSG00000042317 HGNC:20423 SRD5A3 gene SRD5A3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, 612379;Kahrizi syndrome, 612713 28253385;30019980;24433453 False 3 100;0;0 4.81 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSBP1 gene SSBP1 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 31298765;31479473;31550237;31550240;34905022 False 3 100;0;0 4.81 False ENSG00000106028 ENSG00000106028 HGNC:11317 STN1 gene STN1 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 27432940;34110109 False 3 100;0;0 4.81 False ENSG00000107960 ENSG00000107960 HGNC:26200 TIMM8A gene TIMM8A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Eye Disorders;Mohr-Tranebjaerg syndrome, 304700 False 3 100;0;0 4.81 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMP3 gene TIMP3 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sorsby fundus dystrophy;Eye Disorders;Macular Dystrophy/Degeneration/Stargardt Disease False 3 100;0;0 4.81 True Other - please provide details in the comments ENSG00000100234 ENSG00000100234 HGNC:11822 TINF2 gene TINF2 Expert Review Green;Literature Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Revesz syndrome, 268130 18252230;21477109;28095086;28866069;29749240;30478948 False 3 100;0;0 4.81 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM216 gene TMEM216 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, OMIM:608091, MONDO:0011963;Meckel syndrome 2, OMIM:603194, MONDO:0011296 32687549;20512146 False 3 100;0;0 4.81 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682 False 3 100;0;0 4.81 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, OMIM:614970 23012439;27449316 False 3 100;0;0 4.81 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000155755 ENSG00000155755 HGNC:14432 TOPORS gene TOPORS Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 31;Eye Disorders;Retinitis pigmentosa 31, 609923;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa Review of the literature from Stephanie Barton (Manchester) - Bowne et al (2008) Two different TOPORS mutations, p.Glu808X and p.Arg857GlyfsX9, were each identified in one proband. Patients with these mutations exhibited clinical signs typical of advanced adRP. Mol Vis May 19;14: 922-7;O'Sullivan et al (2012) A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet. May;49(5):322-6;Identified nonsense mutation Arg847Ter in RP patient;Eisenberger et al (2013) Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One. Nov 12;8(11):e78496 False 3 100;0;0 4.81 False ENSG00000197579 ENSG00000197579 HGNC:21653 TPP1 gene TPP1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 2, 204500 False 3 100;0;0 4.81 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRAF3IP1 gene TRAF3IP1 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, OMIM:616629 26487268 False 3 100;0;0 4.81 False ENSG00000204104 ENSG00000204104 HGNC:17861 TREX1 gene TREX1 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315 17660820 False 3 50;50;0 4.81 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRNT1 gene TRNT1 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084 26494905;28390992;27389523 False 3 50;50;0 4.81 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM1 gene TRPM1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1C, autosomal recessive;Congenital Stationary Night Blindness;Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 False 3 100;0;0 4.81 True ENSG00000134160 ENSG00000134160 HGNC:7146 TSPAN12 gene TSPAN12 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eye Disorders;Exudative vitreoretinopathy 5, OMIM:613310 False 3 100;0;0 4.81 True ENSG00000106025 ENSG00000106025 HGNC:21641 TTC8 gene TTC8 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 8, 209900;Retinitis pigmentosa 51, 613464;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa;?Retinitis pigmentosa 51 False 3 100;0;0 4.81 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTLL5 gene TTLL5 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 19,615860 24791901;28173158 False 3 100;0;0 4.81 False ENSG00000119685 ENSG00000119685 HGNC:19963 TUB gene TUB Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions 16643894;24375934;12076089;10629044 False 3 100;0;0 4.81 True ENSG00000166402 ENSG00000166402 HGNC:12406 TUBB4B gene TUBB4B Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis with early-onset deafness, OMIM:617879 29198720 False 3 100;0;0 4.81 False ENSG00000188229 ENSG00000188229 HGNC:20771 TUBGCP4 gene TUBGCP4 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335 25817018;32270730;33137195 False 3 50;50;0 4.81 False ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;NHS GMS;RetNet Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, OMIM:251270;microcephaly and chorioretinopathy 1, MONDO:0009624 22279524;25344692;31077665 False 3 50;50;0 4.81 False ENSG00000128159 ENSG00000128159 HGNC:18127 TULP1 gene TULP1 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 15; Retinitis pigmentosa 14;Leber Congenital Amaurosis;Retinitis pigmentosa 14, 600132;Eye Disorders;Retinitis pigmentosa 14, 600132Leber congenital amaurosis 15, 613843;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000112041 ENSG00000112041 HGNC:12423 UNC119 gene UNC119 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Cone-Rod Dystrophy, Dominant;CD4 lymphopenia, idiopathic (Gorska (2012) Blood 119, 1399) 11006213;23563732;27079236 False 3 33;33;33 4.81 False ENSG00000109103 ENSG00000109103 HGNC:12565 USH1C gene USH1C Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa; Usher syndrome, type 2A;Eye Disorders;Usher syndrome, type 2A, 276901Retinitis pigmentosa 39, 613809;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa False 3 100;0;0 4.81 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP45 gene USP45 Expert Review Green;Literature Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Lebers congenital amaurosis;retinal dystrophy;?Leber congenital amaurosis 19, OMIMM:618513 30573563 False 3 100;0;0 4.81 False ENSG00000123552 ENSG00000123552 HGNC:20080 VCAN gene VCAN Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wagner Syndrome;Eye Disorders False 3 100;0;0 4.81 True ENSG00000038427 ENSG00000038427 HGNC:2464 VPS13B gene VPS13B Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 True ENSG00000132549 ENSG00000132549 HGNC:2183 WDPCP gene WDPCP Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, OMIM:615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 4.81 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 4.81 False ENSG00000157796 ENSG00000157796 HGNC:18340 WHRN gene WHRN Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 False ENSG00000095397 ENSG00000095397 HGNC:16361 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Green Retinal disorders Posterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive OMIM:270700 18394578;14409555;19805727;16217069 False 3 100;0;0 4.81 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF408 gene ZNF408 Expert list;Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial exudative vitreoretinopathy (FEVR) PMID: 23716654;PMID: 27228167;PMID: 25882705 - associated of homozygous variants in Retinitis pigmentosa;PMID: 25711638 - c.G443A:p.R148Q identified in a proband with FEVR, found in two affected family members and not in 20,000 controls from databases. False 3 100;0;0 4.81 True ENSG00000175213 ENSG00000175213 HGNC:20041 ZNF423 gene ZNF423 Expert Review Green;NHS GMS Retinal disorders Posterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 4.81 True ENSG00000102935 ENSG00000102935 HGNC:16762