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 Ophthalmology 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 8.123 True ENSG00000198691 ENSG00000198691 HGNC:34 ABCC6 gene ABCC6 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum, OMIM:264800;inherited pseudoxanthoma elasticum, MONDO:0100091 False 3 100;0;0 8.123 False ENSG00000091262 ENSG00000091262 HGNC:57 ABHD12 gene ABHD12 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000100997 ENSG00000100997 HGNC:15868 ACBD5 gene ACBD5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026 27799409;23105016;33427402 False 3 25;50;25 8.123 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACO2 gene ACO2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 34056600 False 3 50;50;0 8.123 True ENSG00000100412 ENSG00000100412 HGNC:118 ADAM9 gene ADAM9 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000168615 ENSG00000168615 HGNC:216 ADAMTS18 gene ADAMTS18 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 False 3 100;0;0 8.123 True ENSG00000140873 ENSG00000140873 HGNC:17110 ADGRV1 gene ADGRV1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, 605472;Eye Disorders;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 3 100;0;0 8.123 False ENSG00000164199 ENSG00000164199 HGNC:17416 AFG3L2 gene AFG3L2 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology 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 8.123 False ENSG00000141385 ENSG00000141385 HGNC:315 AGBL5 gene AGBL5 Expert Review Green;NHS GMS;Other Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 75, 617023 26720455;26355662;27764769;27842159 False 3 50;0;50 8.123 False ENSG00000084693 ENSG00000084693 HGNC:26147 AHI1 gene AHI1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Joubert syndrome 3, 608629 False 3 100;0;0 8.123 False ENSG00000135541 ENSG00000135541 HGNC:21575 AHR gene AHR Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 85, OMIM:618345;retinitis pigmentosa 85, MONDO:0032689 29726989;31896775;31009037;33193710;35188035 False 3 60;40;0 8.123 False ENSG00000106546 ENSG00000106546 HGNC:348 AIPL1 gene AIPL1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411 25926518;34122451;37711606;37235056 False 3 100;0;0 8.123 False ENSG00000160224 ENSG00000160224 HGNC:360 ALDH3A2 gene ALDH3A2 Expert Review Green;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 25784589;29071827;29183715;31273323 False 3 100;0;0 8.123 False ENSG00000072210 ENSG00000072210 HGNC:403 ALMS1 gene ALMS1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Alstrom syndrome, 203800 False 3 100;0;0 8.123 True ENSG00000116127 ENSG00000116127 HGNC:428 ALPK1 gene ALPK1 Expert list;Expert Review Green Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ROSAH syndrome, OMIM:614979 30967659;31939038;31053777;34159509;35868845 False 3 100;0;0 8.123 False ENSG00000073331 ENSG00000073331 HGNC:20917 AMACR gene AMACR Expert Review Green;Literature Retinal disorders Ophthalmology 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 8.123 False Other ENSG00000242110 ENSG00000242110 HGNC:451 AP5M1 gene AP5M1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Lysosomal macular dystrophy 40081374 False 3 100;0;0 8.123 False ENSG00000053770 ENSG00000053770 HGNC:20192 AP5Z1 gene AP5Z1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Lysosomal macular dystrophy 40081374 False 3 100;0;0 8.123 False Other ENSG00000242802 ENSG00000242802 HGNC:22197 ARHGEF18 gene ARHGEF18 Expert Review Green;NHS GMS;Other Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 78 617433 28132693 False 3 100;0;0 8.123 False ENSG00000104880 ENSG00000104880 HGNC:17090 ARL13B gene ARL13B Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, OMIM:612291, MONDO:0012855 18674751;30573647;25138100;29255182 False 3 50;50;0 8.123 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL2BP gene ARL2BP Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without situs inversus, 615434 False 3 100;0;0 8.123 True ENSG00000102931 ENSG00000102931 HGNC:17146 ARL3 gene ARL3 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology 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 8.123 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARSG gene ARSG Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV, OMIM:618144 32455177;33629623;29300381;33300174 False 3 75;25;0 8.123 False ENSG00000141337 ENSG00000141337 HGNC:24102 ATF6 gene ATF6 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia 7, 616517 26063662;26029869 False 3 67;33;0 8.123 False ENSG00000118217 ENSG00000118217 HGNC:791 ATOH7 gene ATOH7 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000179774 ENSG00000179774 HGNC:13907 BBS1 gene BBS1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 False 3 100;0;0 8.123 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 10, 615987 False 3 100;0;0 8.123 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 12, 615989 False 3 100;0;0 8.123 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 2, 615981;Retinitis pigmentosa 74, 616562 False 3 100;0;0 8.123 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 4, 615982 False 3 100;0;0 8.123 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 5, 615983 False 3 100;0;0 8.123 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 7, 615984 False 3 100;0;0 8.123 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 9, 615986 False 3 100;0;0 8.123 True ENSG00000122507 ENSG00000122507 HGNC:30000 BEST1 gene BEST1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000167995 ENSG00000167995 HGNC:12703 C19orf44 gene C19orf44 Expert Review Green;NHS GMS;Research Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal late onset retinal dystrophy 40079362 False 3 100;0;0 8.123 False ENSG00000105072 ENSG00000105072 HGNC:26141 C1QTNF5 gene C1QTNF5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000223953 ENSG00000223953 HGNC:14344 C21orf2 gene C21orf2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with macular staphyloma, 617547 23105016;26294103;27548899 False 3 50;50;0 8.123 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2orf71 gene C2orf71 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa 54, 613428;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive False 3 100;0;0 8.123 True ENSG00000179270 ENSG00000179270 HGNC:34383 C8orf37 gene C8orf37 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000156172 ENSG00000156172 HGNC:27232 CABP4 gene CABP4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000175544 ENSG00000175544 HGNC:1386 CACNA1F gene CACNA1F Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D4 gene CACNA2D4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000151062 ENSG00000151062 HGNC:20202 CAPN5 gene CAPN5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 True ENSG00000149260 ENSG00000149260 HGNC:1482 CC2D2A gene CC2D2A Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360;Joubert syndrome 9, 612285;Meckel syndrome 6, 612284;Eye Disorders False 3 100;0;0 8.123 True ENSG00000048342 ENSG00000048342 HGNC:29253 CDH23 gene CDH23 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000062038 ENSG00000062038 HGNC:1762 CDHR1 gene CDHR1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000148600 ENSG00000148600 HGNC:14550 CEP164 gene CEP164 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP250 gene CEP250 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 24780881;29718797;30459346 False 3 50;50;0 8.123 False ENSG00000126001 ENSG00000126001 HGNC:1859 CEP290 gene CEP290 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP78 gene CEP78 Expert Review Green;NHS GMS;Other Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-Rod Dystrophy and Hearing Loss; CRDHL; OMIM: 617236 28005958;27588451;27588452;27627988 False 3 100;0;0 8.123 False ENSG00000148019 ENSG00000148019 HGNC:25740 CERKL gene CERKL Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000188452 ENSG00000188452 HGNC:21699 CFAP20 gene CFAP20 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa (MONDO:0019200) 36329026 False 3 100;0;0 8.123 False ENSG00000070761 ENSG00000070761 HGNC:29523 CFH gene CFH Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Macular degeneration, age-related, 4} 610698;Basal laminar drusen, 126700 False 3 100;0;0 8.123 False ENSG00000000971 ENSG00000000971 HGNC:4883 CHM gene CHM Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000188419 ENSG00000188419 HGNC:1940 CLEC3B gene CLEC3B Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macular dystrophy, retinal, 4, OMIM:619977 35331648 False 3 100;0;0 8.123 False ENSG00000163815 ENSG00000163815 HGNC:11891 CLN3 gene CLN3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa False 3 100;0;0 8.123 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 False 3 100;0;0 8.123 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 6 601780 False 3 100;0;0 8.123 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 8, 600143 False 3 100;0;0 8.123 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLRN1 gene CLRN1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;?Usher syndrome, type 3A, 276902;Retinitis pigmentosa 61, 614180 False 3 100;0;0 8.123 True ENSG00000163646 ENSG00000163646 HGNC:12605 CNGA1 gene CNGA1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 49, OMIM:613756 15570217;25268133;30652268;36115851 False 3 100;0;0 8.123 True ENSG00000198515 ENSG00000198515 HGNC:2148 CNGA3 gene CNGA3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia;Achromatopsia-2, 216900;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 8.123 True ENSG00000144191 ENSG00000144191 HGNC:2150 CNGB1 gene CNGB1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000070729 ENSG00000070729 HGNC:2151 CNGB3 gene CNGB3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3, OMIM:262300;Macular degeneration, juvenile False 3 100;0;0 8.123 True ENSG00000170289 ENSG00000170289 HGNC:2153 CNNM4 gene CNNM4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Jalili syndrome False 3 100;0;0 8.123 True ENSG00000158158 ENSG00000158158 HGNC:105 COL11A1 gene COL11A1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type II, OMIM:604841;Marshall syndrome, OMIM:154780 10486316;17318849 False 3 67;0;33 8.123 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL18A1 gene COL18A1 BRIDGE consortium (NIHRBR-RD);Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL2A1 gene COL2A1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Eye Disorders False 3 100;0;0 8.123 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A1 gene COL9A1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134 16909383;21421862 False 3 67;0;33 8.123 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, OMIM:614284 21671392;31090205;33356723 False 3 67;0;33 8.123 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type VI, OMIM:620022 30450842;33570243;33633367 False 3 100;0;0 8.123 False ENSG00000092758 ENSG00000092758 HGNC:2219 COQ2 gene COQ2 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426;coenzyme Q10 deficiency, primary, 1, MONDO:0011829 36266294 False 3 100;0;0 8.123 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ8B gene COQ8B Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200 39226897 False 3 100;0;0 8.123 False Other ENSG00000123815 ENSG00000123815 HGNC:19041 CRB1 gene CRB1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis, OMIM:613835;Retinitis pigmentosa-12, OMIM:600105 False 3 100;0;0 8.123 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000105392 ENSG00000105392 HGNC:2383 CSPP1 gene CSPP1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Joubert syndrome 21,615636 False 3 100;0;0 8.123 True ENSG00000104218 ENSG00000104218 HGNC:26193 CTC1 gene CTC1 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 22267198 False 3 100;0;0 8.123 False ENSG00000178971 ENSG00000178971 HGNC:26169 CTNNA1 gene CTNNA1 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology 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 8.123 False ENSG00000044115 ENSG00000044115 HGNC:2509 CTNNB1 gene CTNNB1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exudative vitreoretinopathy 7, OMIM:617572 28575650;28514307;35361685 False 3 100;0;0 8.123 False ENSG00000168036 ENSG00000168036 HGNC:2514 CTNND1 gene CTNND1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted exudative vitreoretinopathy, MONDO:0019516 35700046 False 3 100;0;0 8.123 False ENSG00000198561 ENSG00000198561 HGNC:2515 CTSD gene CTSD Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 10, 610127 False 3 100;0;0 8.123 False ENSG00000117984 ENSG00000117984 HGNC:2529 CWC27 gene CWC27 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, 250410 28285769;34726245 False 3 100;0;0 8.123 False ENSG00000153015 ENSG00000153015 HGNC:10664 CYP2U1 gene CYP2U1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, OMIM:615030;retinal disorder, MONDO:0005283 23176821;26914923;29034544;33107650;34546337;34828401;38058766;39605873 False 3 100;0;0 8.123 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP4V2 gene CYP4V2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bietti crystalline corneoretinal dystrophy, 210370;Eye Disorders;Retinitis pigmentosa False 3 100;0;0 8.123 True ENSG00000145476 ENSG00000145476 HGNC:23198 DCT gene DCT Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism, type VIII, OMIM:619165;oculocutaneous albinism type 8, MONDO:0030899 33100333;33959807 False 3 100;0;0 8.123 False ENSG00000080166 ENSG00000080166 HGNC:2709 DHDDS gene DHDDS Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861 False 3 100;0;0 8.123 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHX38 gene DHX38 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 84, OMIM:618220 24737827;30208423;35719279;37867960 False 3 75;25;0 8.123 False ENSG00000140829 ENSG00000140829 HGNC:17211 DRAM2 gene DRAM2 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 21, 616502;macular dystrophy;cone-dystrophy 25983245;26720460;31394102 False 3 50;50;0 8.123 False ENSG00000156171 ENSG00000156171 HGNC:28769 DYNC2H1 gene DYNC2H1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200 32753734 False 3 100;0;0 8.123 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYRK1A gene DYRK1A Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 7, OMIM:614104;Retinal disorder, MONDO:0005283 19081073;33159716;36736451;40405340 False 3 100;0;0 8.123 False Other ENSG00000157540 ENSG00000157540 HGNC:3091 EFEMP1 gene EFEMP1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Doyne honeycomb degeneration of retina, OMIM:126600 False 3 100;0;0 8.123 True ENSG00000115380 ENSG00000115380 HGNC:3218 ELOVL4 gene ELOVL4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000118402 ENSG00000118402 HGNC:14415 ERCC6 gene ERCC6 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, OMIM:133540 False 3 100;0;0 8.123 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal "Cockayne syndrome, type A 216400" False 3 100;0;0 8.123 True ENSG00000049167 ENSG00000049167 HGNC:3439 EYS gene EYS Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 25, OMIM:602772 18836446;18976725;35710107 False 3 100;0;0 8.123 True ENSG00000188107 ENSG00000188107 HGNC:21555 FAM161A gene FAM161A Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa 28, 606068;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive False 3 100;0;0 8.123 True ENSG00000170264 ENSG00000170264 HGNC:25808 FAM57B gene FAM57B Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy, MONDO:0015993;Maculopathy 28041643;33077892 False 3 33;0;67 8.123 False ENSG00000149926 ENSG00000149926 HGNC:25295 FLVCR1 gene FLVCR1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinopathy-sensory neuropathy syndrome, OMIM:609033;posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 False 3 100;0;0 8.123 True ENSG00000162769 ENSG00000162769 HGNC:24682 FZD4 gene FZD4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Eye Disorders False 3 100;0;0 8.123 False ENSG00000174804 ENSG00000174804 HGNC:4042 GNAT1 gene GNAT1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary, autosomal dominant 3, 610444 False 3 100;0;0 8.123 False ENSG00000114349 ENSG00000114349 HGNC:4393 GNAT2 gene GNAT2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia;Achromatopsia-4;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 8.123 True ENSG00000134183 ENSG00000134183 HGNC:4394 GNB3 gene GNB3 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary, type 1H, OMIM:617024, MONDO:0014872 27063057;17065478 False 3 50;50;0 8.123 False ENSG00000111664 ENSG00000111664 HGNC:4400 GNPTG gene GNPTG Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Mucolipidosis III gamma False 3 100;0;0 8.123 False ENSG00000090581 ENSG00000090581 HGNC:23026 GPR143 gene GPR143 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000101850 ENSG00000101850 HGNC:20145 GPR179 gene GPR179 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 False 3 100;0;0 8.123 True ENSG00000188888 ENSG00000277399 HGNC:31371 GRK1 gene GRK1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oguchi disease-2, 613411 False 3 100;0;0 8.123 False ENSG00000185974 ENSG00000185974 HGNC:10013 GRM6 gene GRM6 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 False 3 100;0;0 8.123 True ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM:614706;neuronal ceroid lipofuscinosis 1, MONDO:0013866 31855245;28404863;30922528 False 3 50;0;50 8.123 False ENSG00000030582 ENSG00000030582 HGNC:4601 GUCA1A gene GUCA1A Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone dystrophy-3, 602093;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 8.123 True ENSG00000048545 ENSG00000048545 HGNC:4678 GUCA1B gene GUCA1B Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000112599 ENSG00000112599 HGNC:4679 GUCY2D gene GUCY2D Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000132518 ENSG00000132518 HGNC:4689 HCCS gene HCCS Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000004961 ENSG00000004961 HGNC:4837 HGSNAT gene HGSNAT Expert Review Green;NHS GMS;Other Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 73 25859010 False 3 100;0;0 8.123 False ENSG00000165102 ENSG00000165102 HGNC:26527 HK1 gene HK1 Expert Review Green;NHS GMS;Other Retinal disorders Ophthalmology 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 8.123 False ENSG00000156515 ENSG00000156515 HGNC:4922 HMX1 gene HMX1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 8.123 True ENSG00000215612 ENSG00000215612 HGNC:5017 IDH3A gene IDH3A Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, OMIM:619007;retinitis pigmentosa 90, MONDO:0033563 31012789;30478029;30058936;28412069;28058510 False 3 100;0;0 8.123 False ENSG00000166411 ENSG00000166411 HGNC:5384 IDH3B gene IDH3B Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa 46, 612572;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive False 3 100;0;0 8.123 True ENSG00000101365 ENSG00000101365 HGNC:5385 IDH3G gene IDH3G Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Retinitis pigmentosa 99, OMIM:301148, retinitis pigmentosa 99, MONDO:0978291 40119724 False 3 100;0;0 8.123 False ENSG00000067829 ENSG00000067829 HGNC:5386 IFT140 gene IFT140 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618 25168386;29659833 False 3 50;50;0 8.123 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183;29588463 False 3 67;33;0 8.123 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, OMIM:617119 27486776;32144365 False 3 100;0;0 8.123 False ENSG00000096872 ENSG00000096872 HGNC:21424 IKBKG gene IKBKG Expert Review Green;NHS GMS Retinal disorders Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, OMIM:308300 False 3 100;0;0 8.123 False ENSG00000073009 ENSG00000269335 HGNC:5961 IMPDH1 gene IMPDH1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000106348 ENSG00000106348 HGNC:6052 IMPG1 gene IMPG1 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000112706 ENSG00000112706 HGNC:6055 IMPG2 gene IMPG2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000081148 ENSG00000081148 HGNC:18362 INPP5E gene INPP5E Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis);Leber congenital amaurosis;Eye Disorders False 3 100;0;0 8.123 True ENSG00000173226 ENSG00000173226 HGNC:28949 JAG1 gene JAG1 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450;exudative vitreoretinopathy, MONDO:0019516 31273345;34185059 False 3 75;25;0 8.123 False ENSG00000101384 ENSG00000101384 HGNC:6188 KCNJ13 gene KCNJ13 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000115474 ENSG00000115474 HGNC:6259 KCNV2 gene KCNV2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal Cone Dystrophy;Eye Disorders;Achromatopsia, Cone, and Cone-rod Dystrophy False 3 100;0;0 8.123 True ENSG00000168263 ENSG00000168263 HGNC:19698 KIAA1549 gene KIAA1549 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 86, OMIM:618613;retinitis pigmentosa 86, MONDO:0032834 23105016;30120214;31213501;34027671;36819107 False 3 75;0;25 8.123 False ENSG00000122778 ENSG00000122778 HGNC:22219 KIF11 gene KIF11 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIZ gene KIZ Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 69, 615780;HP:0000556;HP:0000510 31556760;29057815;28837078;24680887 False 3 50;50;0 8.123 False ENSG00000088970 ENSG00000088970 HGNC:15865 KLHL7 gene KLHL7 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000122550 ENSG00000122550 HGNC:15646 LAMA1 gene LAMA1 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, OMIM:615960 25105227;28283601;33251915;29167897;328840387;32195884 False 3 50;50;0 8.123 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMP2 gene LAMP2 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology 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 8.123 False Other ENSG00000005893 ENSG00000005893 HGNC:6501 LCA5 gene LCA5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000135338 ENSG00000135338 HGNC:31923 LRAT gene LRAT Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000121207 ENSG00000121207 HGNC:6685 LRIT3 gene LRIT3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000183423 ENSG00000183423 HGNC:24783 LRP2 gene LRP2 BRIDGE consortium (NIHRBR-RD);Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome 222448 25682901;29388841;17632512 False 3 100;0;0 8.123 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP5 gene LRP5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eye Disorders;Exudative vitreoretinopathy 4 False 3 100;0;0 8.123 True ENSG00000162337 ENSG00000162337 HGNC:6697 LZTFL1 gene LZTFL1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Bardet-Biedl syndrome 17 False 3 100;0;0 8.123 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAK gene MAK Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000111837 ENSG00000111837 HGNC:6816 MAN2B1 gene MAN2B1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, OMIM:248500;alpha-mannosidosis, MONDO:0009561 9758606;15534274;21670350;29859105 False 3 100;0;0 8.123 False Other ENSG00000104774 ENSG00000104774 HGNC:6826 MCOLN1 gene MCOLN1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, OMIM:252650 1488220;17239335;18326692;25156245;33965501;35205297 False 3 100;0;0 8.123 False Other ENSG00000090674 ENSG00000090674 HGNC:13356 MED12 gene MED12 Expert Review Green;Literature Retinal disorders Ophthalmology 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 8.123 False ENSG00000184634 ENSG00000184634 HGNC:11957 MERTK gene MERTK Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000153208 ENSG00000153208 HGNC:7027 MFRP gene MFRP Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000235718 ENSG00000235718 HGNC:18121 MFSD8 gene MFSD8 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000164073 ENSG00000164073 HGNC:28486 MIR204 gene MIR204 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722;familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome;MONDO:0014747 26056285;37321975 False 3 75;25;0 8.123 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000207935 ENSG00000207935 HGNC:31582 MKKS gene MKKS Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert list;Expert Review Green Retinal disorders Ophthalmology 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 8.123 False ENSG00000132763 ENSG00000132763 HGNC:24525 MPDZ gene MPDZ Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219 28556411;36429029;36594712 False 3 100;0;0 8.123 False Other ENSG00000107186 ENSG00000107186 HGNC:7208 MSTO1 gene MSTO1 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675 29339779;28544275;31604776;31130378;28554942;37431817 False 3 100;0;0 8.123 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MITOCHONDRIAL NARP syndrome, MONDO:0010794 8095070;8476414;11843698;17568559;19124644;22819295;23266623;24118886;27015314;29054413;29224958;33600551;36809201 False 3 75;25;0 8.123 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-TL1 gene MT-TL1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MITOCHONDRIAL Retinal dystrophy, HP:0000556;Macular dystrophy, HP:0007754 18332310;23806424 False 3 75;25;0 8.123 False ENSG00000209082 ENSG00000209082 HGNC:7490 MTTP gene MTTP Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, OMIM:200100, MONDO:0008692 False 3 50;50;0 8.123 False ENSG00000138823 ENSG00000138823 HGNC:7467 MVK gene MVK Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377;retinitis pigmentosa, MONDO:0019200 24084495;35916082 False 3 50;50;0 8.123 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYO7A gene MYO7A Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1B, OMIM:276900 False 3 100;0;0 8.123 True ENSG00000137474 ENSG00000137474 HGNC:7606 NBAS gene NBAS Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800;short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889 20577004;28115293;36479642;34110364 False 3 75;25;0 8.123 False ENSG00000151779 ENSG00000151779 HGNC:15625 NDP gene NDP Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000124479 ENSG00000124479 HGNC:7678 NEUROD1 gene NEUROD1 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Retinopathy;Permanent neonatal diabetes 25477324;25684977;22784109;29521454 False 3 50;50;0 8.123 False ENSG00000162992 ENSG00000162992 HGNC:7762 NMNAT1 gene NMNAT1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 9, 608553 28369829 False 3 100;0;0 8.123 True ENSG00000173614 ENSG00000173614 HGNC:17877 NPHP1 gene NPHP1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders 34415307 False 3 100;0;0 8.123 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000131697 ENSG00000131697 HGNC:19104 NR2E3 gene NR2E3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000031544 ENSG00000278570 HGNC:7974 NRL gene NRL Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000129535 ENSG00000129535 HGNC:8002 NYX gene NYX Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000188937 ENSG00000188937 HGNC:8082 OAT gene OAT Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000065154 ENSG00000065154 HGNC:8091 OFD1 gene OFD1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000046651 ENSG00000046651 HGNC:2567 OPN1LW gene OPN1LW Expert Review Green;NHS GMS Retinal disorders Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy, 303700 8213841;8666378;15094734;8792812 False 3 100;0;0 8.123 False ENSG00000102076 ENSG00000102076 HGNC:9936 OPN1MW gene OPN1MW Expert Review Green;NHS GMS Retinal disorders Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy, 303700 False 3 100;0;0 8.123 False ENSG00000147380 ENSG00000268221 HGNC:4206 OTX2 gene OTX2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000165588 ENSG00000165588 HGNC:8522 P3H2 gene P3H2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670 21885030;24172257;25469533 False 3 50;50;0 8.123 False ENSG00000090530 ENSG00000090530 HGNC:19317 PANK2 gene PANK2 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal HARP syndrome; Neurodegeneration with brain iron accumulation 1 False 3 100;0;0 8.123 False ENSG00000125779 ENSG00000125779 HGNC:15894 PAX2 gene PAX2 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Papillorenal syndrome, OMIM:120330;renal coloboma syndrome, MONDO:0007352 22213154 False 3 50;50;0 8.123 False ENSG00000075891 ENSG00000075891 HGNC:8616 PCDH15 gene PCDH15 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000150275 ENSG00000150275 HGNC:14674 PCYT1A gene PCYT1A Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000161217 ENSG00000161217 HGNC:8754 PDE6A gene PDE6A Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 43;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 43, 613810 False 3 100;0;0 8.123 True ENSG00000132915 ENSG00000132915 HGNC:8785 PDE6B gene PDE6B Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000133256 ENSG00000133256 HGNC:8786 PDE6C gene PDE6C Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000095464 ENSG00000095464 HGNC:8787 PDE6G gene PDE6G Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 57, 613582 False 3 100;0;0 8.123 True ENSG00000185527 ENSG00000185527 HGNC:8789 PDSS1 gene PDSS1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, OMIM:614651;deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837 36266294 False 3 100;0;0 8.123 False ENSG00000148459 ENSG00000148459 HGNC:17759 PEX1 gene PEX1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX2 gene PEX2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX6 gene PEX6 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Refsum disease False 3 100;0;0 8.123 True ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Refsum disease False 3 100;0;0 8.123 True ENSG00000107537 ENSG00000107537 HGNC:8940 PLA2G5 gene PLA2G5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 False ENSG00000127472 ENSG00000127472 HGNC:9038 PLK4 gene PLK4 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology 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 8.123 False ENSG00000142731 ENSG00000142731 HGNC:11397 PNPLA6 gene PNPLA6 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology 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 8.123 False ENSG00000032444 ENSG00000032444 HGNC:16268 POC1B gene POC1B Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 25018096;24945461 False 3 100;0;0 8.123 False ENSG00000139323 ENSG00000139323 HGNC:30836 POC5 gene POC5 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology 29272404;40590205 False 3 67;33;0 8.123 False ENSG00000152359 ENSG00000152359 HGNC:26658 POMGNT1 gene POMGNT1 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 76, OMIM:617123, MONDO:0014929 27391550;26908613 False 3 50;50;0 8.123 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000130714 ENSG00000130714 HGNC:9202 PPT1 gene PPT1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 1, 256730 False 3 100;0;0 8.123 False ENSG00000131238 ENSG00000131238 HGNC:9325 PQLC2 gene PQLC2 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200 35486108 False 3 100;0;0 8.123 False ENSG00000040487 ENSG00000040487 HGNC:26001 PRCD gene PRCD Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 36, 610599 False 3 100;0;0 8.123 True ENSG00000214140 ENSG00000214140 HGNC:32528 PRDM13 gene PRDM13 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown North Carolina macular dystrophy, MONDO:0007630 29258872;28973654;26507665;30710461 False 3 50;50;0 8.123 False Other ENSG00000112238 ENSG00000112238 HGNC:13998 PROM1 gene PROM1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000007062 ENSG00000007062 HGNC:9454 PRPF3 gene PRPF3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000117360 ENSG00000117360 HGNC:17348 PRPF31 gene PRPF31 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000105618 ENSG00000105618 HGNC:15446 PRPF4 gene PRPF4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 70 False 3 100;0;0 8.123 True ENSG00000136875 ENSG00000136875 HGNC:17349 PRPF6 gene PRPF6 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000101161 ENSG00000101161 HGNC:15860 PRPF8 gene PRPF8 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000174231 ENSG00000174231 HGNC:17340 PRPH2 gene PRPH2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 100;0;0 8.123 True ENSG00000112619 ENSG00000112619 HGNC:9942 PRPS1 gene PRPS1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000147224 ENSG00000147224 HGNC:9462 PYGM gene PYGM Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal macular dystrophy, retinal, MONDO:0031166 30316539 False 3 100;0;0 8.123 False Other ENSG00000068976 ENSG00000068976 HGNC:9726 RAB28 gene RAB28 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 18, 615374 False 3 100;0;0 8.123 True ENSG00000157869 ENSG00000157869 HGNC:9768 RAX2 gene RAX2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 8.123 False ENSG00000173976 ENSG00000173976 HGNC:18286 RBP3 gene RBP3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66, OMIM:615233 37806543;23486466;25766589;23105016 False 3 67;33;0 8.123 True ENSG00000107618 ENSG00000265203 HGNC:9921 RBP4 gene RBP4 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000138207 ENSG00000138207 HGNC:9922 RCBTB1 gene RCBTB1 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000136144 ENSG00000136144 HGNC:18243 RD3 gene RD3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis;Leber congenital amaurosis 12, 610612;Eye Disorders False 3 100;0;0 8.123 True ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000139988 ENSG00000139988 HGNC:19977 RDH5 gene RDH5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fundus albipunctatus, OMIM:136880;fundus albipunctatus, MONDO:0007639 21529959;34726233;22815624;10369264;25820994;32232344 False 3 100;0;0 8.123 False ENSG00000135437 ENSG00000135437 HGNC:9940 REEP6 gene REEP6 Expert Review Green;Literature;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa;Retinitis pigmentosa 77, 617304 30101608;28475715;28369466;27889058;24691551 False 3 100;0;0 8.123 False ENSG00000115255 ENSG00000115255 HGNC:30078 RGR gene RGR Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 44, OMIM:613769;Retinitis pigmentosa 44, MONDO:0013414 False 3 75;25;0 8.123 True ENSG00000148604 ENSG00000148604 HGNC:9990 RGS9 gene RGS9 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders False 3 100;0;0 8.123 True ENSG00000108370 ENSG00000108370 HGNC:10004 RHO gene RHO Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000163914 ENSG00000163914 HGNC:10012 RIMS2 gene RIMS2 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970 32470375 False 3 100;0;0 8.123 False ENSG00000176406 ENSG00000176406 HGNC:17283 RLBP1 gene RLBP1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fundus albipunctatus, OMIM:136880;Retinitis punctata albescens, OMIM:136880;Bothnia retinal dystrophy, OMIM:607475;Newfoundland rod-cone dystrophy, OMIM:607476 11176989;11868161;11453974;21447491;32345050;37883093 False 3 100;0;0 8.123 True ENSG00000140522 ENSG00000140522 HGNC:10024 RNU4-2 gene RNU4-2 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown retinitis pigmentosa, MONDO:0019200 39830270 False 3 100;0;0 8.123 False ENSG00000202538 ENSG00000202538 HGNC:10193 RNU4ATAC gene RNU4ATAC Expert Review;Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome, OMIM:226960;Roifman syndrome, OMIM:616651 2801768;29265708;30368667 False 3 100;0;0 8.123 False ENSG00000264229 ENSG00000264229 HGNC:34016 RNU6-1 gene RNU6-1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown retinitis pigmentosa, MONDO:0019200 39830270 False 3 100;0;0 8.123 False ENSG00000206625 ENSG00000206625 HGNC:10227 RNU6-2 gene RNU6-2 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown retinitis pigmentosa, MONDO:0019200 39830270 False 3 100;0;0 8.123 False ENSG00000207357 ENSG00000207357 HGNC:34270 RNU6-8 gene RNU6-8 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown retinitis pigmentosa, MONDO:0019200 39830270 False 3 100;0;0 8.123 False ENSG00000202337 ENSG00000202337 HGNC:34285 RNU6-9 gene RNU6-9 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown retinitis pigmentosa, MONDO:0019200 39830270 False 3 100;0;0 8.123 False ENSG00000207507 ENSG00000207507 HGNC:34269 ROM1 gene ROM1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000149489 ENSG00000149489 HGNC:10254 RP1 gene RP1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000104237 ENSG00000104237 HGNC:10263 RP1L1 gene RP1L1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Occult macular dystrophy, OMIM:613587 (AD);Retinitis pigmentosa 88, OMIM:618826 (AR) 23281133;20826268 False 3 50;50;0 8.123 True ENSG00000183638 ENSG00000183638 HGNC:15946 RP2 gene RP2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000102218 ENSG00000102218 HGNC:10274 RP9 gene RP9 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 9, 180104 False 3 50;50;0 8.123 False ENSG00000164610 ENSG00000164610 HGNC:10288 RPE65 gene RPE65 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and 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 8.123 True ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal COACH syndrome; Joubert syndrome 7; Meckel syndrome 5;Eye Disorders False 3 100;0;0 8.123 True ENSG00000103494 ENSG00000103494 HGNC:29168 RS1 gene RS1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000102104 ENSG00000102104 HGNC:10457 SAG gene SAG Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oguchi disease-1, OMIM:258100;Retinitis pigmentosa 47, autosomal recessive, OMIM:613758;Retinitis pigmentosa 96, autosomal dominant, OMIM:620228 28549094;33047631;40461169 False 3 100;0;0 8.123 False ENSG00000130561 ENSG00000130561 HGNC:10521 SAMD7 gene SAMD7 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Macular dystrophy with or without cone dysfunction, OMIM:620762 38272031 False 3 100;0;0 8.123 False Other ENSG00000187033 ENSG00000187033 HGNC:25394 SCAPER gene SCAPER Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000140386 ENSG00000140386 HGNC:13081 SDCCAG8 gene SDCCAG8 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000054282 ENSG00000054282 HGNC:10671 SGSH gene SGSH Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, HP:0000556;retinitis pigmentosa, MONDO:0019200 31718697;32195255 False 3 100;0;0 8.123 False Other ENSG00000181523 ENSG00000181523 HGNC:10818 SLC24A1 gene SLC24A1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital Stationary Night Blindness;Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 False 3 100;0;0 8.123 True ENSG00000074621 ENSG00000074621 HGNC:10975 SLC37A3 gene SLC37A3 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200 28041643;35486108 False 3 80;0;20 8.123 False ENSG00000157800 ENSG00000157800 HGNC:20651 SLC38A8 gene SLC38A8 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218;foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216;chiasmal misrouting 24290379;24045842;15466012;24290379;24045842;32744312 False 3 100;0;0 8.123 False ENSG00000166558 ENSG00000166558 HGNC:32434 SLC6A6 gene SLC6A6 Expert Review Green;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Early retinal degeneration;cardiomyopathy 31345061;31903486;29886034;17875433 False 3 0;100;0 8.123 False ENSG00000131389 ENSG00000131389 HGNC:11052 SNRNP200 gene SNRNP200 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 33, 610359 False 3 100;0;0 8.123 True ENSG00000144028 ENSG00000144028 HGNC:30859 SPATA7 gene SPATA7 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000042317 ENSG00000042317 HGNC:20423 SPG11 gene SPG11 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, OMIM:604360;retinal disorder, MONDO:0005283 19194956;36343909;38613257;39391989 False 3 100;0;0 8.123 False Other ENSG00000104133 ENSG00000104133 HGNC:11226 SRD5A3 gene SRD5A3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, 612379;Kahrizi syndrome, 612713 28253385;30019980;24433453 False 3 100;0;0 8.123 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSBP1 gene SSBP1 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000106028 ENSG00000106028 HGNC:11317 STN1 gene STN1 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 27432940;34110109 False 3 100;0;0 8.123 False ENSG00000107960 ENSG00000107960 HGNC:26200 STX3 gene STX3 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy and microvillus inclusion disease, OMIM:619446 33974130 False 3 100;0;0 8.123 False ENSG00000166900 ENSG00000166900 HGNC:11438 SUMF1 gene SUMF1 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, OMIM:272200;inherited retinal dystrophy, MONDO:0019118 38863195 False 3 100;0;0 8.123 False Other ENSG00000144455 ENSG00000144455 HGNC:20376 TBC1D32 gene TBC1D32 Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 100, OMIM:621280;retinitis pigmentosa, MONDO:0019200 37768732 False 3 100;0;0 8.123 False ENSG00000146350 ENSG00000146350 HGNC:21485 THRB gene THRB Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inherited retinal dystrophy, MONDO:0019118 37547476;40295579;41153457 False 3 100;0;0 8.123 False ENSG00000151090 ENSG00000151090 HGNC:11799 TIMM8A gene TIMM8A Expert Review Green;NHS GMS Retinal disorders Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Eye Disorders;Mohr-Tranebjaerg syndrome, 304700 False 3 100;0;0 8.123 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMP3 gene TIMP3 Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sorsby fundus dystrophy;Eye Disorders;Macular Dystrophy/Degeneration/Stargardt Disease False 3 100;0;0 8.123 True Other - please provide details in the comments ENSG00000100234 ENSG00000100234 HGNC:11822 TINF2 gene TINF2 Expert Review Green;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Revesz syndrome, 268130 18252230;21477109;28095086;28866069;29749240;30478948 False 3 100;0;0 8.123 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM216 gene TMEM216 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682 False 3 100;0;0 8.123 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, OMIM:614970 23012439;27449316 False 3 100;0;0 8.123 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000155755 ENSG00000155755 HGNC:14432 TOPORS gene TOPORS Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 False ENSG00000197579 ENSG00000197579 HGNC:21653 TPP1 gene TPP1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Ceroid lipofuscinosis, neuronal, 2, 204500 False 3 100;0;0 8.123 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRAF3IP1 gene TRAF3IP1 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, OMIM:616629 26487268 False 3 100;0;0 8.123 False ENSG00000204104 ENSG00000204104 HGNC:17861 TREX1 gene TREX1 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315 17660820 False 3 50;50;0 8.123 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRNT1 gene TRNT1 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology 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 8.123 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM1 gene TRPM1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000134160 ENSG00000134160 HGNC:7146 TSPAN12 gene TSPAN12 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eye Disorders;Exudative vitreoretinopathy 5, OMIM:613310 False 3 100;0;0 8.123 True ENSG00000106025 ENSG00000106025 HGNC:21641 TTC21B gene TTC21B Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, HP:0000556 21068128;33599192 False 3 80;0;20 8.123 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTLL5 gene TTLL5 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 19,615860 24791901;28173158 False 3 100;0;0 8.123 False ENSG00000119685 ENSG00000119685 HGNC:19963 TUB gene TUB Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions 16643894;24375934;12076089;10629044 False 3 100;0;0 8.123 True ENSG00000166402 ENSG00000166402 HGNC:12406 TUBB4B gene TUBB4B Expert list;Expert Review Green Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis with early-onset deafness, OMIM:617879 29198720 False 3 100;0;0 8.123 False ENSG00000188229 ENSG00000188229 HGNC:20771 TUBGCP4 gene TUBGCP4 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335 25817018;32270730;33137195 False 3 50;50;0 8.123 False ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;NHS GMS;RetNet Retinal disorders Ophthalmology 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 8.123 False ENSG00000128159 ENSG00000128159 HGNC:18127 TULP1 gene TULP1 Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000112041 ENSG00000112041 HGNC:12423 UBAP1L gene UBAP1L Expert Review Green;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Rod-cone dystrophy, HP:0000510;cone-rod dystrophy, MONDO:0015993;retinitis pigmentosa, MONDO:0019200 28041643;38293907 False 3 60;0;40 8.123 False ENSG00000246922 ENSG00000246922 HGNC:40028 USH1C gene USH1C Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP45 gene USP45 Expert Review Green;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Leber congenital amaurosis 19, OMIM:618513 30573563 False 3 100;0;0 8.123 False ENSG00000123552 ENSG00000123552 HGNC:20080 VCAN gene VCAN Expert Review Green;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wagner Syndrome;Eye Disorders False 3 100;0;0 8.123 True ENSG00000038427 ENSG00000038427 HGNC:2464 VPS13B gene VPS13B Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 True ENSG00000132549 ENSG00000132549 HGNC:2183 VSX2 gene VSX2 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinal disorder MONDO:0005283;Microphthalmia/coloboma 3, OMIM:610092 36264558;24001013;20414678 False 3 75;0;25 8.123 False ENSG00000119614 ENSG00000119614 HGNC:1975 WDPCP gene WDPCP Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions False 3 100;0;0 8.123 False ENSG00000157796 ENSG00000157796 HGNC:18340 WHRN gene WHRN Expert Review Green;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 False ENSG00000095397 ENSG00000095397 HGNC:16361 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Green Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive OMIM:270700 18394578;14409555;19805727;16217069 False 3 100;0;0 8.123 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF408 gene ZNF408 Expert list;Expert Review Green;NHS GMS Retinal disorders Ophthalmology 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 8.123 True ENSG00000175213 ENSG00000175213 HGNC:20041 ZNF423 gene ZNF423 Expert Review Green;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eye Disorders False 3 100;0;0 8.123 True ENSG00000102935 ENSG00000102935 HGNC:16762 ADIPOR1 gene ADIPOR1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000159346 ENSG00000159346 HGNC:24040 AP5B1 gene AP5B1 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal macular dystrophy, retinal, MONDO:0031166 40081374;41830174 False 2 67;33;0 8.123 False Other ENSG00000254470 ENSG00000254470 HGNC:25104 ASRGL1 gene ASRGL1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000162174 ENSG00000162174 HGNC:16448 BBIP1 gene BBIP1 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995;Bardet-Biedl syndrome 18, MONDO:0014446 24026985;32055034;37239474 False 2 33;33;33 8.123 False ENSG00000214413 ENSG00000214413 HGNC:28093 C12orf65 gene C12orf65 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035 False 2 0;100;0 8.123 False ENSG00000130921 ENSG00000130921 HGNC:26784 CCT2 gene CCT2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000166226 ENSG00000166226 HGNC:1615 CEP19 gene CEP19 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000174007 ENSG00000174007 HGNC:28209 CEP76 gene CEP76 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 8.123 False ENSG00000101624 ENSG00000101624 HGNC:25727 CLCC1 gene CLCC1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000121940 ENSG00000121940 HGNC:29675 CLUAP1 gene CLUAP1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000103351 ENSG00000103351 HGNC:19009 COQ5 gene COQ5 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;coenzyme q10 deficiency, primary, 9, MONDO:0033615 29044765;36266294;37599337;41199775 False 2 50;50;0 8.123 False ENSG00000110871 ENSG00000110871 HGNC:28722 CYP2R1 gene CYP2R1 Expert Review Amber;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal "Vogt-Koyanagi-Harada disease;Rickets due to defect in vitamin D 25-hydroxylation 600081" 27716192 False 2 50;0;50 8.123 False ENSG00000186104 ENSG00000186104 HGNC:20580 DMD gene DMD Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000198947 ENSG00000198947 HGNC:2928 EGFLAM gene EGFLAM Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital stationary night blindness, HP:0007642 18641643;41343198 False 2 50;50;0 8.123 False Other ENSG00000164318 ENSG00000164318 HGNC:26810 ELOVL1 gene ELOVL1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 False 2 0;100;0 8.123 False ENSG00000066322 ENSG00000066322 HGNC:14418 ESPN gene ESPN Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000187017 ENSG00000187017 HGNC:13281 EXOSC2 gene EXOSC2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000130713 ENSG00000130713 HGNC:17097 FRMD7 gene FRMD7 Expert Review Amber;Literature Retinal disorders Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Nystagmus 1, congenital, X-linked, OMIM:310700;Nystagmus, infantile periodic alternating, X-linked, OMIM:310700;foveal hypoplasia, MONDO:0044203 30025138;24688117;33531592;30015830;35157951 False 2 50;50;0 8.123 False ENSG00000165694 ENSG00000165694 HGNC:8079 FSD1L gene FSD1L Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200;neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 8.123 False Other ENSG00000106701 ENSG00000106701 HGNC:13753 GDF6 gene GDF6 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Klippel-Feil syndrome 1, autosomal dominant, 118100;Leber congenital amaurosis 17, 615360;Microphthalmia with coloboma 6, digenic, 613703;Microphthalmia, isolated 4, 613094 23307924;32737436 False 2 0;50;50 8.123 False ENSG00000156466 ENSG00000156466 HGNC:4221 GPATCH11 gene GPATCH11 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;retinal disorder, MONDO:0005283 39572588 False 2 0;100;0 8.123 False ENSG00000152133 ENSG00000152133 HGNC:26768 IFT81 gene IFT81 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485 28460050;26275418;27666822;32783357 False 2 0;100;0 8.123 False ENSG00000122970 ENSG00000122970 HGNC:14313 INTS11 gene INTS11 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 37054711;41810893 False 2 100;0;0 8.123 False Other ENSG00000127054 ENSG00000127054 HGNC:26052 KIF3B gene KIF3B Expert list;Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hepatic fibrosis;Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071;postaxial polydactyly 32386558 False 2 0;100;0 8.123 False ENSG00000101350 ENSG00000101350 HGNC:6320 LIG3 gene LIG3 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 2 50;50;0 8.123 False ENSG00000005156 ENSG00000005156 HGNC:6600 LRRC32 gene LRRC32 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 30976112;35656379;40721351;https://doi.org/10.1016/j.rare.2025.100101 False 2 33;67;0 8.123 False ENSG00000137507 ENSG00000137507 HGNC:4161 MAPKAPK3 gene MAPKAPK3 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000114738 ENSG00000114738 HGNC:6888 MDM1 gene MDM1 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, HP:0000556 41742423 False 2 100;0;0 8.123 False Other ENSG00000111554 ENSG00000111554 HGNC:29917 MORC2 gene MORC2 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090;Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Retinal dystrophy, HP:0000556 26659848;32693025;36791574;39143067;40302207 False 2 100;0;0 8.123 False Other ENSG00000133422 ENSG00000133422 HGNC:23573 MT-TH gene MT-TH Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MITOCHONDRIAL False 2 0;100;0 8.123 False ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TP gene MT-TP Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MITOCHONDRIAL False 2 0;100;0 8.123 False ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TS2 gene MT-TS2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MITOCHONDRIAL False 2 0;100;0 8.123 False ENSG00000210184 ENSG00000210184 HGNC:7498 OPN1SW gene OPN1SW Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000128617 ENSG00000128617 HGNC:1012 PAK2 gene PAK2 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome, OMIM:618458 33693784;38894571;39876536;39994693;40262506;40247748 False 2 100;0;0 8.123 False ENSG00000180370 ENSG00000180370 HGNC:8591 PAX6 gene PAX6 Eligibility statement prior genetic testing;Expert Review Amber;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Foveal hypoplasia 1, OMIM:136520;Microphthalmia/coloboma 12, OMIM:120200;?Coloboma of optic nerve, OMIM:120430;?Morning glory disc anomaly, OMIM:120430;Aniridia, OMIM:106210;Cataract with late-onset corneal dystrophy, OMIM:106210;Keratitis, OMIM:148190;Optic nerve hypoplasia, OMIM:165550;Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229 False 2 40;20;40 8.123 False ENSG00000007372 ENSG00000007372 HGNC:8620 PDE6H gene PDE6H Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia 6, OMIM:610024;achromatopsia 6, MONDO:0800197 15629837;22901948;25739440;27472364;35567543;36980963 False 2 25;75;0 8.123 False ENSG00000139053 ENSG00000139053 HGNC:8790 PGK1 gene PGK1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000102144 ENSG00000102144 HGNC:8896 POMGNT2 gene POMGNT2 Expert list;Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 22958903;27066570 False 2 0;100;0 8.123 False ENSG00000144647 ENSG00000144647 HGNC:25902 RDH11 gene RDH11 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;15634683;30731079;18326732;41904678;34988992;41459630;41904678 False 2 33;33;33 8.123 False ENSG00000072042 ENSG00000072042 HGNC:17964 RTN4IP1 gene RTN4IP1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000130347 ENSG00000130347 HGNC:18647 SAMD11 gene SAMD11 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000187634 ENSG00000187634 HGNC:28706 SEMA4A gene SEMA4A Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 16199541 False 2 0;50;50 8.123 True ENSG00000196189 ENSG00000196189 HGNC:10729 SLC25A46 gene SLC25A46 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000164209 ENSG00000164209 HGNC:25198 SPG7 gene SPG7 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 False 2 0;100;0 8.123 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPP2 gene SPP2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000072080 ENSG00000072080 HGNC:11256 SPTLC1 gene SPTLC1 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macular telangiectasia type 2;vision loss 31509666 False 2 100;0;0 8.123 False ENSG00000090054 ENSG00000090054 HGNC:11277 TEAD1 gene TEAD1 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sveinsson chorioretinal atrophy, OMIM:108985;helicoid peripapillary chorioretinal degeneration, MONDO:0007176 15016762;26091538;33864784;40984966 False 2 33;67;0 8.123 False ENSG00000187079 ENSG00000187079 HGNC:11714 TTPA gene TTPA Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000137561 ENSG00000137561 HGNC:12404 UNC119 gene UNC119 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 24, OMIM:620342;retinal disorder, MONDO:0005283 11006213;23563732;27079236;35947183;30910914 False 2 17;67;17 8.123 False ENSG00000109103 ENSG00000109103 HGNC:12565 VWA8 gene VWA8 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Retinitis pigmentosa 97, OMIM:620422 37012052 False 2 0;100;0 8.123 False ENSG00000102763 ENSG00000102763 HGNC:29071 ATXN7_CAG str ATXN7 Expert Review Green;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500;autosomal dominant cerebellar ataxia type II, MONDO:0016163 27632585;9288099 False 3 100;0;0 8.123 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37