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 Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 3, 604116;Retinal dystrophy, early-onset severe;Eye Disorders;Fundus flavimaculatus;{Macular degeneration, age-related, 2}, 153800;Retinitis pigmentosa 19, 601718;Stargardt disease 1, 248200 False 1 0;0;100 4.43 False ENSG00000198691 ENSG00000198691 HGNC:34 ABHD12 gene ABHD12 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674;Eye Disorders False 1 0;0;100 4.43 False ENSG00000100997 ENSG00000100997 HGNC:15868 ADAM9 gene ADAM9 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 9, 612775;Eye Disorders 25091951 False 1 0;0;100 4.43 False ENSG00000168615 ENSG00000168615 HGNC:216 ADGRV1 gene ADGRV1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, 605472;Eye Disorders False 1 0;0;100 4.43 False ENSG00000164199 ENSG00000164199 HGNC:17416 AGBL1 gene AGBL1 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 8, 615523 False 1 0;0;100 4.43 False ENSG00000166748 ENSG00000273540 HGNC:26504 AGK gene AGK NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cataract 38, autosomal recessive, 614691;Sengers syndrome, 212350 False 1 0;0;100 4.43 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGPS gene AGPS NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, 600121 False 1 0;0;100 4.43 False ENSG00000018510 ENSG00000018510 HGNC:327 AHI1 gene AHI1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, 608629 False 1 0;0;100 4.43 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALDH18A1 gene ALDH18A1 NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA, 219150 21739576 False 1 0;0;100 4.43 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALMS1 gene ALMS1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome 203800;Eye Disorders False 1 0;0;100 4.43 False ENSG00000116127 ENSG00000116127 HGNC:428 ALX3 gene ALX3 Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Frontonasal Dysplasia 1, FND1, 136760 19409524 False 1 50;0;50 4.43 False ENSG00000156150 ENSG00000156150 HGNC:449 ARL13B gene ARL13B Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 612291 25138100;18674751 False 1 0;0;100 4.43 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, 600151;{Bardet-Biedl syndrome 1, modifier of} 209900;Retinitis pigmentosa 55, 613575;Eye Disorders 19097054 False 1 0;0;100 4.43 False ENSG00000113966 ENSG00000113966 HGNC:13210 ASB10 gene ASB10 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, F, 603383 False 1 0;0;100 4.43 False ENSG00000146926 ENSG00000146926 HGNC:17185 ATP13A2 gene ATP13A2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal KUFOR-RAKEB SYNDROME, 606693;SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225;Eye Disorders False 1 0;0;100 4.43 False ENSG00000159363 ENSG00000159363 HGNC:30213 BBS1 gene BBS1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome1, 209900;Eye Disorders False 1 0;0;100 4.43 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome10, 615987;Eye Disorders False 1 0;0;100 4.43 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome12, 615989;Eye Disorders False 1 0;0;100 4.43 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 74, 616562;Bardet-Biedl syndrome2, 615981;Eye Disorders False 1 0;0;100 4.43 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome4, 615982;Eye Disorders False 1 0;0;100 4.43 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome5, 615983;Eye Disorders False 1 0;0;100 4.43 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome7, 615984;Eye Disorders False 1 0;0;100 4.43 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome9, 615986;Eye Disorders False 1 0;0;100 4.43 False ENSG00000122507 ENSG00000122507 HGNC:30000 BFSP1 gene BFSP1 NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 33, 611391 False 1 0;0;100 4.43 False ENSG00000125864 ENSG00000125864 HGNC:1040 BFSP2 gene BFSP2 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 12, multiple types, 611597 False 1 0;0;100 4.43 False ENSG00000170819 ENSG00000170819 HGNC:1041 C1QTNF5 gene C1QTNF5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal degeneration, late-onset, autosomal dominant, 605670;Eye Disorders False 1 0;0;100 4.43 False ENSG00000223953 ENSG00000223953 HGNC:14344 C2orf71 gene C2orf71 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 54, 613428;Eye Disorders False 1 0;0;100 4.43 False ENSG00000179270 ENSG00000179270 HGNC:34383 C5orf42 gene C5orf42 Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Oriofaciodigital Syndrome VI, OFD6, 277170;Joubert syndrome 17, 614615 24178751 False 1 33;0;67 4.43 False ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 16, 614500;Eye Disorders False 1 0;0;100 4.43 False ENSG00000156172 ENSG00000156172 HGNC:27232 CA4 gene CA4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 17, 600852;Eye Disorders False 1 0;0;100 4.43 False ENSG00000167434 ENSG00000167434 HGNC:1375 CABP4 gene CABP4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427;Eye Disorders False 1 0;0;100 4.43 False ENSG00000175544 ENSG00000175544 HGNC:1386 CACNA1F gene CACNA1F Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cone-rod dystropy, X-linked, 3, 300476;Aland Island eye disease, 300600;Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071;Eye Disorders False 1 0;0;100 4.43 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D4 gene CACNA2D4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 4, 610478;Eye Disorders False 1 0;0;100 4.43 False ENSG00000151062 ENSG00000151062 HGNC:20202 CDH23 gene CDH23 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D, 601067;Eye Disorders False 1 0;0;100 4.43 False ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280;Hypotrichosis, congenital, with juvenile macular dystrophy, 601553;Eye Disorders False 1 0;0;100 4.43 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDHR1 gene CDHR1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 15, 613660;Eye Disorders False 1 0;0;100 4.43 False ENSG00000148600 ENSG00000148600 HGNC:14550 CEP41 gene CEP41 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 15, 614464 22246503 False 1 0;0;100 4.43 False ENSG00000106477 ENSG00000106477 HGNC:12370 CERKL gene CERKL Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 26, 608380;Eye Disorders False 1 0;0;100 4.43 False ENSG00000188452 ENSG00000188452 HGNC:21699 CHM gene CHM Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Choroideremia, 303100;Eye Disorders False 1 0;0;100 4.43 False ENSG00000188419 ENSG00000188419 HGNC:1940 CHMP4B gene CHMP4B NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 31, multiple types, 605387 17701905 False 1 0;0;100 4.43 False ENSG00000101421 ENSG00000101421 HGNC:16171 CHST6 gene CHST6 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy, 217800 False 1 0;0;100 4.43 False ENSG00000183196 ENSG00000183196 HGNC:6938 CIB2 gene CIB2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IJ, 614869;Eye Disorders False 1 0;0;100 4.43 False ENSG00000136425 ENSG00000136425 HGNC:24579 CLN3 gene CLN3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, 204200;Eye Disorders False 1 0;0;100 4.43 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, 256731;Eye Disorders False 1 0;0;100 4.43 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Eye Disorders False 1 0;0;100 4.43 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, 600143;Eye Disorders False 1 0;0;100 4.43 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLRN1 gene CLRN1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 3A, 276902;Retinitis pigmentosa 61, 614180;Eye Disorders False 1 0;0;100 4.43 False ENSG00000163646 ENSG00000163646 HGNC:12605 CNGA1 gene CNGA1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 49, OMIM:613756 False 1 0;0;100 4.43 False ENSG00000198515 ENSG00000198515 HGNC:2148 CNGA3 gene CNGA3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia-2, 216900;Eye Disorders 24504161 False 1 0;0;100 4.43 False ENSG00000144191 ENSG00000144191 HGNC:2150 CNGB1 gene CNGB1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 45, 613767;Eye Disorders False 1 0;0;100 4.43 False ENSG00000070729 ENSG00000070729 HGNC:2151 CNGB3 gene CNGB3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia-3, 262300;Macular degeneration, juvenile, 248200;Eye Disorders False 1 0;0;100 4.43 False ENSG00000170289 ENSG00000170289 HGNC:2153 COL11A1 gene COL11A1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marshall syndrome, 154780;Stickler syndrome, type II, 604841;Eye Disorders False 1 0;0;100 4.43 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eye Disorders False 1 0;0;100 4.43 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL8A2 gene COL8A2 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 1, 136800;Corneal dystrophy, posterior polymorphous 2, 609140 False 1 0;0;100 4.43 False ENSG00000171812 ENSG00000171812 HGNC:2216 COL9A1 gene COL9A1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134 False 1 0;0;100 4.43 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, OMIM:614284 False 1 0;0;100 4.43 False ENSG00000049089 ENSG00000049089 HGNC:2218 CRX gene CRX Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis 7, 613829;Cone-rod retinal dystrophy-2, 120970;Eye Disorders False 1 0;0;100 4.43 False ENSG00000105392 ENSG00000105392 HGNC:2383 CRYAB gene CRYAB NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 16, multiple types, OMIM:613763 False 1 0;0;100 4.43 False ENSG00000109846 ENSG00000109846 HGNC:2389 CRYBA1 gene CRYBA1 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 10, multiple types, 600881 26303524 False 1 0;0;100 4.43 False ENSG00000108255 ENSG00000108255 HGNC:2394 CRYGB gene CRYGB NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 39, multiple types, autosomal dominant, 615188 False 1 0;0;100 4.43 False ENSG00000182187 ENSG00000182187 HGNC:2409 CRYGS gene CRYGS NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 20, multiple types, 116100 False 1 0;0;100 4.43 False ENSG00000213139 ENSG00000213139 HGNC:2417 CSPP1 gene CSPP1 Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, 615636 False 1 50;0;50 4.43 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTDP1 gene CTDP1 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, facial dysmorphism, and neuropathy, 604168 False 1 0;0;100 4.43 False ENSG00000060069 ENSG00000060069 HGNC:2498 CTSD gene CTSD Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127;Eye Disorders False 1 0;0;100 4.43 False ENSG00000117984 ENSG00000117984 HGNC:2529 CYP27A1 gene CYP27A1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal CEREBROTENDINOUS XANTHOMATOSIS, 213700;Eye Disorders False 1 0;0;100 4.43 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP4V2 gene CYP4V2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bietti crystalline corneoretinal dystrophy, 210370;Eye Disorders False 1 0;0;100 4.43 False ENSG00000145476 ENSG00000145476 HGNC:23198 CYP51A1 gene CYP51A1 NHS GMS Structural eye disease Ophthalmology False 1 0;0;100 4.43 False ENSG00000001630 ENSG00000001630 HGNC:2649 DCN gene DCN NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, congenital stromal, 610048 False 1 0;0;100 4.43 False ENSG00000011465 ENSG00000011465 HGNC:2705 DDB1 gene DDB1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology 17129780 False 1 0;0;100 4.43 False ENSG00000167986 ENSG00000167986 HGNC:2717 DDB2 gene DDB2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740 False 1 0;0;100 4.43 False ENSG00000134574 ENSG00000134574 HGNC:2718 DHCR7 gene DHCR7 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400 False 1 0;0;100 4.43 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861 False 1 0;0;100 4.43 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHX38 gene DHX38 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 84, OMIM:618220;coloboma of macula, MONDO:0007351 False 1 0;0;100 4.43 False ENSG00000140829 ENSG00000140829 HGNC:17211 DPYD gene DPYD NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency , 274270 False 1 0;0;100 4.43 False ENSG00000188641 ENSG00000188641 HGNC:3012 ELOVL4 gene ELOVL4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stargardt disease 3, 600110;Eye Disorders False 1 0;0;100 4.43 False ENSG00000118402 ENSG00000118402 HGNC:14415 ELP4 gene ELP4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ANIRIDIA 2, 617141;?Aniridia 2 24290376;29217025 False 1 0;0;100 4.43 False ENSG00000109911 ENSG00000109911 HGNC:1171 EP300 gene EP300 Expert Review Red;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 2, OMIM:613684;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, MONDO:0013364 26279656 False 1 0;0;100 4.43 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPG5 gene EPG5 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840 False 1 0;0;100 4.43 False ENSG00000152223 ENSG00000152223 HGNC:29331 ERCC2 gene ERCC2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675;Xeroderma pigmentosum, group D, 278730;Trichothiodystrophy, 601675;Cerebrooculofacioskeletal syndrome 2, 610756 False 1 0;0;100 4.43 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390 False 1 0;0;100 4.43 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760 False 1 0;0;100 4.43 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780;Cerebrooculofacioskeletal syndrome 3, 616570 False 1 0;0;100 4.43 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal Syndrome;Cerebrooculofacioskeletal syndrome 1, 214150;Cockayne syndrome, type B, 133540;De Sanctis-Cacchione syndrome, 278800;{Macular degeneration, age-related, susceptibility to 5}, 613761;UV-sensitive syndrome 1, 600630;{Lung cancer, susceptibility to}, 211980 False 1 0;0;100 4.43 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, 216400 False 1 0;0;100 4.43 False ENSG00000049167 ENSG00000049167 HGNC:3439 EYA1 gene EYA1 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootic syndrome 1, 602588;Anterior segment anomalies with or without cataract, 113650 False 1 0;0;100 4.43 False ENSG00000104313 ENSG00000104313 HGNC:3519 EYS gene EYS Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 25, 602772;Eye Disorders False 1 0;0;100 4.43 False ENSG00000188107 ENSG00000188107 HGNC:21555 FADD gene FADD NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted None;Iris coloboma, retinal coloboma 17656375 False 1 0;0;100 4.43 False ENSG00000168040 ENSG00000168040 HGNC:3573 FAM111A gene FAM111A NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gracile bone dysplasia;127000;602361;Kenny-Caffey syndrome, type 2 False 1 0;0;100 4.43 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM126A gene FAM126A NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532 False 1 0;0;100 4.43 False ENSG00000122591 ENSG00000122591 HGNC:24587 FAM161A gene FAM161A Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 28, 606068;Eye Disorders False 1 0;0;100 4.43 False ENSG00000170264 ENSG00000170264 HGNC:25808 FANCA gene FANCA Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia, Complementation Group A, FA, 227650 8502512;12913077 False 1 50;0;50 4.43 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCD2 gene FANCD2 Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia, Complementation Group D2, FANCD2, 227646 12893777 False 1 50;0;50 4.43 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia, Complementation Group E, FANCE, 600901 False 1 50;0;50 4.43 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCI gene FANCI Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia, Complementation Group I, FANCI, 609053 False 1 50;0;50 4.43 False ENSG00000140525 ENSG00000140525 HGNC:25568 FLVCR1 gene FLVCR1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033;Eye Disorders False 1 0;0;100 4.43 False ENSG00000162769 ENSG00000162769 HGNC:24682 FNBP4 gene FNBP4 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920 False 1 0;0;100 4.43 False ENSG00000109920 ENSG00000109920 HGNC:19752 FOXD3 gene FOXD3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis;Peters anomaly;aniridia 22815627 False 1 50;0;50 4.43 False Other - please provide details in the comments ENSG00000187140 ENSG00000187140 HGNC:3804 FOXL2 gene FOXL2 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharophimosis, epicanthus inversus, and ptosis, 110100 False 1 0;0;100 4.43 False ENSG00000183770 ENSG00000183770 HGNC:1092 FSCN2 gene FSCN2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 30, 607921;Eye Disorders False 1 0;0;100 4.43 False ENSG00000186765 ENSG00000186765 HGNC:3960 FTL gene FTL NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperferritinemia-cataract syndrome, 600886 False 1 0;0;100 4.43 False ENSG00000087086 ENSG00000087086 HGNC:3999 FYCO1 gene FYCO1 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cataract 18, autosomal recessive, 610019 False 1 0;0;100 4.43 False ENSG00000163820 ENSG00000163820 HGNC:14673 GALK1 gene GALK1 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200 False 1 0;0;100 4.43 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALT gene GALT NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Galactosemia, 230400 False 1 0;0;100 4.43 False ENSG00000213930 ENSG00000213930 HGNC:4135 GCNT2 gene GCNT2 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 13 with adult i phenotype, 116700 False 1 0;0;100 4.43 False ENSG00000111846 ENSG00000111846 HGNC:4204 GFER gene GFER NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 False 1 0;0;100 4.43 False ENSG00000127554 ENSG00000127554 HGNC:4236 GJA3 gene GJA3 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 14, multiple types, 601885 False 1 0;0;100 4.43 False ENSG00000121743 ENSG00000121743 HGNC:4277 GNAT1 gene GNAT1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Night blindness, congenital stationary, type 1G, 616389;Night blindness, congenital stationary, autosomal dominant 3, 610444;Eye Disorders False 1 0;0;100 4.43 False ENSG00000114349 ENSG00000114349 HGNC:4393 GNAT2 gene GNAT2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia-4,613856;Eye Disorders False 1 0;0;100 4.43 False ENSG00000134183 ENSG00000134183 HGNC:4394 GNPTG gene GNPTG NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605 False 1 0;0;100 4.43 False ENSG00000090581 ENSG00000090581 HGNC:23026 GPR143 gene GPR143 Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nystagmus 6, congenital, X-linked, 300814;Ocular albinism, type I, Nettleship-Falls type, 300500;Eye Disorders False 1 0;0;100 4.43 False ENSG00000101850 ENSG00000101850 HGNC:20145 GPR179 gene GPR179 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565;Eye Disorders False 1 0;0;100 4.43 False ENSG00000188888 ENSG00000277399 HGNC:31371 GRM6 gene GRM6 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270;Eye Disorders False 1 0;0;100 4.43 False ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 False 1 0;0;100 4.43 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSN gene GSN NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, 105120 False 1 0;0;100 4.43 False ENSG00000148180 ENSG00000148180 HGNC:4620 GTF2H5 gene GTF2H5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395 False 1 0;0;100 4.43 False ENSG00000272047 ENSG00000272047 HGNC:21157 GUCA1A gene GUCA1A Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone dystrophy-3, 602093;Eye Disorders False 1 0;0;100 4.43 False ENSG00000048545 ENSG00000048545 HGNC:4678 GUCA1B gene GUCA1B Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, 613827;Eye Disorders False 1 0;0;100 4.43 False ENSG00000112599 ENSG00000112599 HGNC:4679 GUCY2D gene GUCY2D Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 6, 601777;Leber congenital amaurosis 1, 204000;Eye Disorders False 1 0;0;100 4.43 False ENSG00000132518 ENSG00000132518 HGNC:4689 HARS gene HARS Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B, 614504;Charcot-Marie-Tooth disease, axonal, type 2W, 616625;Eye Disorders False 1 0;0;100 4.43 False ENSG00000170445 ENSG00000170445 HGNC:4816 HDAC6 gene HDAC6 Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863 20181727 False 1 0;0;100 4.43 False other - please provide details in the comments ENSG00000094631 ENSG00000094631 HGNC:14064 HSF4 gene HSF4 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 5, multiple types, OMIM:116800 False 1 0;0;100 4.43 False ENSG00000102878 ENSG00000102878 HGNC:5227 IDH3B gene IDH3B Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, 612572;Eye Disorders False 1 0;0;100 4.43 False ENSG00000101365 ENSG00000101365 HGNC:5385 IKBKG gene IKBKG Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Incontinentia pigmenti, OMIM:308300 31119873;20499493;30905793 False 1 50;0;50 4.43 False ENSG00000073009 ENSG00000269335 HGNC:5961 IMPDH1 gene IMPDH1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis 11, 613837;Retinitis pigmentosa 10, 180105;Eye Disorders False 1 0;0;100 4.43 False ENSG00000106348 ENSG00000106348 HGNC:6052 IMPG2 gene IMPG2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 56, 613581;Macular dystrophy, vitelliform, 5, 616152;Eye Disorders False 1 0;0;100 4.43 False ENSG00000081148 ENSG00000081148 HGNC:18362 INVS gene INVS Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, 602088;Eye Disorders False 1 0;0;100 4.43 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254;Eye Disorders False 1 0;0;100 4.43 False ENSG00000173226 ENSG00000173226 HGNC:28949 ITPA gene ITPA NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation;None 26224535 False 1 0;0;100 4.43 False ENSG00000125877 ENSG00000125877 HGNC:6176 ITPR1 gene ITPR1 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gillespie syndrome, 206700 False 1 0;0;100 4.43 False ENSG00000150995 ENSG00000150995 HGNC:6180 JAM3 gene JAM3 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 False 1 0;0;100 4.43 False ENSG00000166086 ENSG00000166086 HGNC:15532 KAT6B gene KAT6B NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome (blepharophimosis), 603736 False 1 0;0;100 4.43 False ENSG00000156650 ENSG00000156650 HGNC:17582 KCNJ13 gene KCNJ13 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 16, 614186;Snowflake vitreoretinal degeneration, 193230;Eye Disorders False 1 0;0;100 4.43 False ENSG00000115474 ENSG00000115474 HGNC:6259 KCNV2 gene KCNV2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 3B, 610356;Eye Disorders False 1 0;0;100 4.43 False ENSG00000168263 ENSG00000168263 HGNC:19698 KCTD7 gene KCTD7 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726;Eye Disorders False 1 0;0;100 4.43 False ENSG00000243335 ENSG00000243335 HGNC:21957 KIAA0556 gene KIAA0556 Expert Review Red;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 32164589 False 1 0;0;100 4.43 False Other ENSG00000047578 ENSG00000047578 HGNC:29068 KIF17 gene KIF17 Expert Review Red;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, MONDO:0021129;Coloboma, MONDO:0001476 33922911;30458707;28341548 False 1 0;0;100 4.43 False ENSG00000117245 ENSG00000117245 HGNC:19167 KIF26B gene KIF26B Expert list Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 26571382;32799327 False 1 0;0;100 4.43 False ENSG00000162849 ENSG00000162849 HGNC:25484 KIF7 gene KIF7 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990;Acrocallosal syndrome 21633164;32164589 False 1 0;0;100 4.43 False ENSG00000166813 ENSG00000166813 HGNC:30497 KLHL7 gene KLHL7 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 42, 612943;Eye Disorders False 1 0;0;100 4.43 False ENSG00000122550 ENSG00000122550 HGNC:15646 KRT12 gene KRT12 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy, 122100 False 1 0;0;100 4.43 False ENSG00000187242 ENSG00000187242 HGNC:6414 KRT3 gene KRT3 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy, 122100 False 1 0;0;100 4.43 False ENSG00000186442 ENSG00000186442 HGNC:6440 LCA5 gene LCA5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 5, 604537;Eye Disorders False 1 0;0;100 4.43 False ENSG00000135338 ENSG00000135338 HGNC:31923 LCAT gene LCAT NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Norum disease, 245900;Fish-eye disease, 136120 False 1 0;0;100 4.43 False ENSG00000213398 ENSG00000213398 HGNC:6522 LIM2 gene LIM2 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cataract 19, multiple types, OMIM:615277 False 1 0;0;100 4.43 False ENSG00000105370 ENSG00000105370 HGNC:6610 LRAT gene LRAT Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 14, 613341;Eye Disorders False 1 0;0;100 4.43 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRIT3 gene LRIT3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058;Eye Disorders False 1 0;0;100 4.43 False ENSG00000183423 ENSG00000183423 HGNC:24783 LRMDA gene LRMDA Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179;Eye Disorders False 1 0;0;100 4.43 False ENSG00000148655 ENSG00000148655 HGNC:23405 LZTFL1 gene LZTFL1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994;Eye Disorders False 1 0;0;100 4.43 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAK gene MAK Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 62, 614181;Eye Disorders False 1 0;0;100 4.43 False ENSG00000111837 ENSG00000111837 HGNC:6816 MAN2B1 gene MAN2B1 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, 248500 False 1 0;0;100 4.43 False ENSG00000104774 ENSG00000104774 HGNC:6826 MERTK gene MERTK Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 38, 613862;Eye Disorders False 1 0;0;100 4.43 False ENSG00000153208 ENSG00000153208 HGNC:7027 MFN2 gene MFN2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 False 1 0;0;100 4.43 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170;CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951;Eye Disorders False 1 0;0;100 4.43 False ENSG00000164073 ENSG00000164073 HGNC:28486 MIP gene MIP NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 15, multiple types, 615274 False 1 0;0;100 4.43 False ENSG00000135517 ENSG00000135517 HGNC:7103 MIR184 gene MIR184 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EDICT syndrome, 614303 False 1 0;0;100 4.43 False ENSG00000207695 ENSG00000207695 HGNC:31555 MKKS gene MKKS Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal 236700;Bardet-Biedl syndrome 6;605231;McKusick-Kaufman syndrome;Eye Disorders False 1 0;0;100 4.43 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, 615990;Meckel syndrome 1, 249000;Eye Disorders 23454480 False 1 0;0;100 4.43 False ENSG00000011143 ENSG00000011143 HGNC:7121 MPLKIP gene MPLKIP Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050 21959366 False 1 0;0;100 4.43 False ENSG00000168303 ENSG00000168303 HGNC:16002 MTTP gene MTTP Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100;Eye Disorders False 1 0;0;100 4.43 False ENSG00000138823 ENSG00000138823 HGNC:7467 MYH9 gene MYH9 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epstein Syndrome, 153650;Fechtner syndrome, 153640 False 1 0;0;100 4.43 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO7A gene MYO7A Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 2;Usher syndrome, type 1B, 276900;Deafness, autosomal dominant 11, 601317;Eye Disorders False 1 0;0;100 4.43 False ENSG00000137474 ENSG00000137474 HGNC:7606 NDUFB11 gene NDUFB11 Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952 25772934 False 1 50;0;50 4.43 False ENSG00000147123 ENSG00000147123 HGNC:20372 NF2 gene NF2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 2 OMIM:101000;neurofibromatosis type 2 MONDO:0007039 33075808;31089872;29923868;9246269;12210058 False 1 0;33;67 4.43 False ENSG00000186575 ENSG00000186575 HGNC:7773 NOTCH2 gene NOTCH2 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hajdu-Cheney syndrome, 102500;Alagille syndrome 2, 610205 22173065 False 1 0;0;100 4.43 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPHP1 gene NPHP1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal 609583;266900;Joubert syndrome, Nephronophthisis;Joubert syndrome 4;Senior-Loken syndrome-1;256100;Nephronophthisis 1, juvenile 15689444;15138899;22982934 False 1 0;0;100 4.43 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal 604387;Eye Disorders;Nephronophthisis 3;Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1;267010;208540 False 1 0;0;100 4.43 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, 606966;Senior-Loken syndrome, 606996;Eye Disorders False 1 0;0;100 4.43 False ENSG00000131697 ENSG00000131697 HGNC:19104 NR2E3 gene NR2E3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 37, 611131;Enhanced S-cone syndrome, 268100;Eye Disorders False 1 0;0;100 4.43 False ENSG00000031544 ENSG00000278570 HGNC:7974 NR2F1 gene NR2F1 Expert Review Red;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722;Bosch-Boonstra-Schaaf optic atrophy syndrome, MONDO:0014320 34787370 False 1 0;0;100 4.43 False ENSG00000175745 ENSG00000175745 HGNC:7975 NRL gene NRL Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 27, OMIM:613750 False 1 0;0;100 4.43 False ENSG00000129535 ENSG00000129535 HGNC:8002 NTF4 gene NTF4 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, 1O, 613100 False 1 0;0;100 4.43 False ENSG00000225950 ENSG00000225950 HGNC:8024 NYX gene NYX Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked, 310500;Eye Disorders False 1 0;0;100 4.43 False ENSG00000188937 ENSG00000188937 HGNC:8082 OAT gene OAT Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia, 258870;Eye Disorders False 1 0;0;100 4.43 False ENSG00000065154 ENSG00000065154 HGNC:8091 OCA2 gene OCA2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Albinism, brown oculocutaneous, 203200;[Skin/hair/eye pigmentation 1, blue/nonblue eyes];Albinism oculocutaneous, type II;[Skin/hair/eye pigmentation 1, blond/brown hair], 227220;Eye Disorders False 1 0;0;100 4.43 False ENSG00000104044 ENSG00000104044 HGNC:8101 OPA1 gene OPA1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Glaucoma, normal tension, susceptibility to}, OMIM:606657;Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896;Behr syndrome, OMIM:210000 False 1 0;0;100 4.43 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 3 with cataract, 165300;Eye Disorders False 1 0;0;100 4.43 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPTN gene OPTN Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, E, OMIM:137760;{Glaucoma, normal tension, susceptibility to}, OMIM:606657;Adult-onset 11834836 False 1 0;0;100 4.43 False ENSG00000123240 ENSG00000123240 HGNC:17142 P3H2 gene P3H2 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292 False 1 0;0;100 4.43 False ENSG00000090530 ENSG00000090530 HGNC:19317 PAX3 gene PAX3 NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 1, 193500;Waardenburg syndrome, type 3, 148820 False 1 0;0;100 4.43 False ENSG00000135903 ENSG00000135903 HGNC:8617 PCDH15 gene PCDH15 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 23, 609533;Usher syndrome, type 1F, 602083;Usher syndrome, type 1D/F digenic, 601067;Eye Disorders False 1 0;0;100 4.43 False ENSG00000150275 ENSG00000150275 HGNC:14674 PDE6A gene PDE6A Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 43, 613810;Eye Disorders False 1 0;0;100 4.43 False ENSG00000132915 ENSG00000132915 HGNC:8785 PDE6B gene PDE6B Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa-40;613801;163500;Night blindness, congenital stationary, autosomal dominant 2;Eye Disorders False 1 0;0;100 4.43 False ENSG00000133256 ENSG00000133256 HGNC:8786 PDE6C gene PDE6C Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone dystrophy 4, 613093;Eye Disorders False 1 0;0;100 4.43 False ENSG00000095464 ENSG00000095464 HGNC:8787 PDE6G gene PDE6G Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 57, 613582;Eye Disorders False 1 0;0;100 4.43 False ENSG00000185527 ENSG00000185527 HGNC:8789 PDE6H gene PDE6H Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia 6, 610024;Eye Disorders False 1 0;0;100 4.43 False ENSG00000139053 ENSG00000139053 HGNC:8790 PDZD7 gene PDZD7 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472;Retinal disease in Usher syndrome type IIA, modifier of, 276901;Eye Disorders False 1 0;0;100 4.43 False ENSG00000186862 ENSG00000186862 HGNC:26257 PEX10 gene PEX10 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6B, 614871 False 1 0;0;100 4.43 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B, 614920 False 1 0;0;100 4.43 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3B, 266510 False 1 0;0;100 4.43 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11B, 614885 False 1 0;0;100 4.43 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), 614887 False 1 0;0;100 4.43 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8B, 614877 False 1 0;0;100 4.43 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), 614886 False 1 0;0;100 4.43 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger), 614866;Peroxisome biogenesis disorder 5B, 614867 False 1 0;0;100 4.43 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7B, 614873 False 1 0;0;100 4.43 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), 603164 False 1 0;0;100 4.43 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2B, 202370 False 1 0;0;100 4.43 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4B, 614863 False 1 0;0;100 4.43 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, 614879;Rhizomelic chondrodysplasia punctata, type 1, 215100;Eye Disorders False 1 0;0;100 4.43 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500;Eye Disorders False 1 0;0;100 4.43 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIKFYVE gene PIKFYVE NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal fleck dystrophy, 121850 False 1 0;0;100 4.43 False ENSG00000115020 ENSG00000115020 HGNC:23785 PITPNM3 gene PITPNM3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone-rod dystrophy 5, 600977;Eye Disorders False 1 0;0;100 4.43 False ENSG00000091622 ENSG00000091622 HGNC:21043 PLA2G5 gene PLA2G5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal [Fleck retina, familial benign], 228980;Eye Disorders False 1 0;0;100 4.43 False ENSG00000127472 ENSG00000127472 HGNC:9038 POLH gene POLH Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, OMIM:278750 False 1 0;0;100 4.43 False ENSG00000170734 ENSG00000170734 HGNC:9181 POLR1C gene POLR1C NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Treacher-Collins Syndrome, 248390 False 1 0;0;100 4.43 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2, OMIM:613717 False 1 0;0;100 4.43 False ENSG00000186184 ENSG00000186184 HGNC:20422 PPT1 gene PPT1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730;Eye Disorders False 1 0;0;100 4.43 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRCD gene PRCD Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 36, 610599;Eye Disorders False 1 0;0;100 4.43 False ENSG00000214140 ENSG00000214140 HGNC:32528 PRDM5 gene PRDM5 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 2, 614170 False 1 0;0;100 4.43 False ENSG00000138738 ENSG00000138738 HGNC:9349 PROM1 gene PROM1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stargardt disease 4, 603786;Macular dystrophy, retinal, 2, 608051;Cone-rod dystrophy 12, 612657;Retinitis pigmentosa 41, 612095;Eye Disorders False 1 0;0;100 4.43 False ENSG00000007062 ENSG00000007062 HGNC:9454 PRPF3 gene PRPF3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 18, 601414;Eye Disorders False 1 0;0;100 4.43 False ENSG00000117360 ENSG00000117360 HGNC:17348 PRPF31 gene PRPF31 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 11, 600138;Eye Disorders False 1 0;0;100 4.43 False ENSG00000105618 ENSG00000105618 HGNC:15446 PRPF6 gene PRPF6 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 60, 613983;Eye Disorders False 1 0;0;100 4.43 False ENSG00000101161 ENSG00000101161 HGNC:15860 PRPF8 gene PRPF8 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 13, 600059;Eye Disorders False 1 0;0;100 4.43 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRPH2 gene PRPH2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis punctata albescens, 136880;Leber congenital amaurosis 18, 608133;Macular dystrophy, patterned, 1, 169150;Eye Disorders;Macular dystrophy, vitelliform, 3, 608161;Choriodal dystrophy, central areolar 2, 613105 False 1 0;0;100 4.43 False ENSG00000112619 ENSG00000112619 HGNC:9942 RARA gene RARA Expert list Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coloboma 31343737 False 1 0;0;100 4.43 False ENSG00000131759 ENSG00000131759 HGNC:9864 RAX2 gene RAX2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macular degeneration, age-related, 6, 613757;Cone-rod dystrophy 11, 610381;Eye Disorders False 1 0;0;100 4.43 False ENSG00000173976 ENSG00000173976 HGNC:18286 RBP3 gene RBP3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 66, 615233;Eye Disorders False 1 0;0;100 4.43 False ENSG00000107618 ENSG00000265203 HGNC:9921 RD3 gene RD3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 12, 610612;Eye Disorders False 1 0;0;100 4.43 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13, 612712;Eye Disorders 25148430;22065924 False 1 0;0;100 4.43 False ENSG00000139988 ENSG00000139988 HGNC:19977 RDH5 gene RDH5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fundus albipunctatus, OMIM:136880 fundus albipunctatus, MONDO:0007639 False 1 0;0;100 4.43 False ENSG00000135437 ENSG00000135437 HGNC:9940 RGR gene RGR Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 44, 613769;Eye Disorders False 1 0;0;100 4.43 False ENSG00000148604 ENSG00000148604 HGNC:9990 RGS9 gene RGS9 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bradyopsia, 608415;Eye Disorders False 1 0;0;100 4.43 False ENSG00000108370 ENSG00000108370 HGNC:10004 RGS9BP gene RGS9BP Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bradyopsia, 608415;Eye Disorders False 1 0;0;100 4.43 False ENSG00000186326 ENSG00000186326 HGNC:30304 RHO gene RHO Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 4, autosomal dominant or recessive, 613731;Fundus albipunctatus, 136880;Night blindness, congenital stationary, autosomal dominant 1, 610445;Eye Disorders False 1 0;0;100 4.43 False ENSG00000163914 ENSG00000163914 HGNC:10012 RIMS1 gene RIMS1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone-rod dystrophy 7, 603649;Eye Disorders 28677725 False 1 0;0;100 4.43 False ENSG00000079841 ENSG00000079841 HGNC:17282 RLBP1 gene RLBP1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 136880;Eye Disorders;Newfoundland rod-cone dystrophy, Fundus albipunctatus;Bothnia retinal dystrophy;607475;607476 False 1 0;0;100 4.43 False ENSG00000140522 ENSG00000140522 HGNC:10024 ROM1 gene ROM1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 7, digenic, 608133;Eye Disorders False 1 0;0;100 4.43 False ENSG00000149489 ENSG00000149489 HGNC:10254 RP1 gene RP1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 1, 180100;Eye Disorders False 1 0;0;100 4.43 False ENSG00000104237 ENSG00000104237 HGNC:10263 RP2 gene RP2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 2, 312600;Eye Disorders 21738648 False 1 0;0;100 4.43 False ENSG00000102218 ENSG00000102218 HGNC:10274 RP9 gene RP9 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Retinitis pigmentosa 9, 180104;Eye Disorders False 1 0;0;100 4.43 False ENSG00000164610 ENSG00000164610 HGNC:10288 RPE65 gene RPE65 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 2, 204100;Eye Disorders False 1 0;0;100 4.43 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Macular degeneration, X-linked atrophic, 300834;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455;Cone-rod dystrophy, X-linked, 1, 304020;Retinitis pigmentosa 3, 300029;Eye Disorders False 1 0;0;100 4.43 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 13, 608194;Leber congenital amaurosis 6, 613826;Eye Disorders False 1 0;0;100 4.43 False ENSG00000092200 ENSG00000092200 HGNC:13436 RS1 gene RS1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Retinoschisis, 312700;Eye Disorders False 1 0;0;100 4.43 False ENSG00000102104 ENSG00000102104 HGNC:10457 SAG gene SAG Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 47;Oguchi disease-1;258100;613758;Eye Disorders False 1 0;0;100 4.43 False ENSG00000130561 ENSG00000130561 HGNC:10521 SC5D gene SC5D NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal LATHOSTEROLOSIS, 607330 False 1 0;0;100 4.43 False ENSG00000109929 ENSG00000109929 HGNC:10547 SDCCAG8 gene SDCCAG8 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, 615993;Senior-Loken syndrome 7, 613615;Eye Disorders False 1 0;0;100 4.43 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEC23A gene SEC23A NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia, 607812 False 1 0;0;100 4.43 False ENSG00000100934 ENSG00000100934 HGNC:10701 SEMA3E gene SEMA3E NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE, 214800 15235037;31464029 False 1 0;0;100 4.43 False ENSG00000170381 ENSG00000170381 HGNC:10727 SEMA4A gene SEMA4A Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 35, 610282;Cone-rod dystrophy 10, 610283;Eye Disorders False 1 0;0;100 4.43 False ENSG00000196189 ENSG00000196189 HGNC:10729 SIL1 gene SIL1 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 1 0;0;100 4.43 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC24A1 gene SLC24A1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830;Eye Disorders False 1 0;0;100 4.43 False ENSG00000074621 ENSG00000074621 HGNC:10975 SLC24A5 gene SLC24A5 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750;Eye Disorders False 1 0;0;100 4.43 False ENSG00000188467 ENSG00000188467 HGNC:20611 SLC33A1 gene SLC33A1 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, hearing loss, and neurodegeneration, 614482 False 1 0;0;100 4.43 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC45A2 gene SLC45A2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal [Skin/hair/eye pigmentation 5, black/nonblack hair];[Skin/hair/eye pigmentation 5, dark/fair skin];Albinism, oculocutaneous, type IV, 606574;[Skin/hair/eye pigmentation 5, dark/light eyes], 227240;Eye Disorders False 1 0;0;100 4.43 False ENSG00000164175 ENSG00000164175 HGNC:16472 SLC4A11 gene SLC4A11 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Corneal endothelial dystrophy and perceptive deafness, 217400;Corneal dystrophy, Fuchs endothelial, 4, 613268;Corneal endothelial dystrophy 2, autosomal recessive, 217700 False 1 0;0;100 4.43 False ENSG00000088836 ENSG00000088836 HGNC:16438 SNRNP200 gene SNRNP200 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 33, 610359;Eye Disorders False 1 0;0;100 4.43 False ENSG00000144028 ENSG00000144028 HGNC:30859 SNX3 gene SNX3 Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No OMIM;Microphthalmia, Syndromic 8, MCOPS8, 601349 12471201 False 1 50;0;50 4.43 False ENSG00000112335 ENSG00000112335 HGNC:11174 SPATA13 gene SPATA13 Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown primary angle-closure glaucoma 32339198 False 1 0;0;100 4.43 False ENSG00000182957 ENSG00000182957 HGNC:23222 SPATA7 gene SPATA7 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, juvenile, autosomal recessive, 604232;Leber congenital amaurosis 3, 604232;Eye Disorders False 1 0;0;100 4.43 False ENSG00000042317 ENSG00000042317 HGNC:20423 SPINT2 gene SPINT2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420;congenital sodium diarrhea with additional features;optic nerve coloboma;Diarrhea 3, secretory sodium, congenital, syndromic, 270420 29575628;24142340, False 1 0;0;100 4.43 False ENSG00000167642 ENSG00000167642 HGNC:11247 TACSTD2 gene TACSTD2 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Corneal dystrophy, gelatinous drop-like, 204870 False 1 0;0;100 4.43 False ENSG00000184292 ENSG00000184292 HGNC:11530 TBC1D23 gene TBC1D23 Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal coloboma, MONDO:0001476;strabismus, MONDO:0003432 28823707;28823706;32360255 False 1 0;50;50 4.43 False ENSG00000036054 ENSG00000036054 HGNC:25622 TBX22 gene TBX22 NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Abruzzo-Erickson syndrome, 302905 22784330 False 1 0;0;100 4.43 False ENSG00000122145 ENSG00000122145 HGNC:11600 TCTN1 gene TCTN1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 13, 614173 22693042;21725307 False 1 0;0;100 4.43 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 24, 616654;Meckel-Gruber syndrome;Meckel syndrome 8, 613885 21565611;25118024 False 1 0;0;100 4.43 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18, 614815;Orofaciodigital syndrome IV, 258860 29725084;25118024 False 1 0;0;100 4.43 False ENSG00000119977 ENSG00000119977 HGNC:24519 TDRD7 gene TDRD7 NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cataract 36, 613887 False 1 0;0;100 4.43 False ENSG00000196116 ENSG00000196116 HGNC:30831 TGFBI gene TGFBI NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 607541;Corneal dystrophy, lattice type IIIA;608470;Corneal dystrophy, lattice type I;122200;Corneal dystrophy, Reis-Bucklers type;121900;Corneal dystrophy, Groenouw type I;Corneal dystrophy, epithelial basement membrane;608471;Corneal dystrophy, Avellino type;121820;Corneal dystrophy, Thiel-Behnke type;602082 False 1 0;0;100 4.43 False ENSG00000120708 ENSG00000120708 HGNC:11771 TIMM8A gene TIMM8A Expert Review Red;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700;Eye Disorders False 1 0;0;100 4.43 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMP3 gene TIMP3 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sorsby fundus dystrophy, 136900;Eye Disorders False 1 0;0;100 4.43 False ENSG00000100234 ENSG00000100234 HGNC:11822 TMEM126A gene TMEM126A Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Optic atrophy, 612989;Eye Disorders False 1 0;0;100 4.43 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM138 gene TMEM138 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 16, 614465 22282472 False 1 0;0;100 4.43 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM231 gene TMEM231 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 20, 614970;Meckel-Gruber syndrome;Meckel syndrome 11, 615397 23349226;23012439 False 1 0;0;100 4.43 False ENSG00000205084 ENSG00000205084 HGNC:37234 TOPORS gene TOPORS Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 31, 609923;Eye Disorders False 1 0;0;100 4.43 False ENSG00000197579 ENSG00000197579 HGNC:21653 TP53BP2 gene TP53BP2 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary Open Angle Glaucoma 27447114;28150229 False 1 0;0;100 4.43 False ENSG00000143514 ENSG00000143514 HGNC:12000 TPP1 gene TPP1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500;Eye Disorders False 1 0;0;100 4.43 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRIM32 gene TRIM32 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110;Eye Disorders False 1 0;0;100 4.43 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM44 gene TRIM44 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Aniridia 3;ANIRIDIA 3, 617142 26394807 False 1 0;0;100 4.43 False ENSG00000166326 ENSG00000166326 HGNC:19016 TRPM1 gene TRPM1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216;Eye Disorders False 1 0;0;100 4.43 False ENSG00000134160 ENSG00000134160 HGNC:7146 TSPAN12 gene TSPAN12 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exudative vitreoretinopathy 5, 613310;Eye Disorders False 1 0;0;100 4.43 False ENSG00000106025 ENSG00000106025 HGNC:21641 TTC21B gene TTC21B Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819;Eye Disorders False 1 0;0;100 4.43 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 51, 613464;Bardet-Biedl syndrome 8, 615985;Eye Disorders False 1 0;0;100 4.43 False ENSG00000165533 ENSG00000165533 HGNC:20087 TULP1 gene TULP1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal 613843;600132;Retinitis pigmentosa 14;Leber congenital amaurosis 15;Eye Disorders False 1 0;0;100 4.43 False ENSG00000112041 ENSG00000112041 HGNC:12423 TYR gene TYR Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, OMIM:203100;Albinism, oculocutaneous, type IB, OMIM:606952;Waardenburg syndrome/albinism, digenic, OMIM:103470 28778995 False 1 0;0;100 4.43 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III, 203290;[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271;Eye Disorders 10644000 False 1 0;0;100 4.43 False ENSG00000107165 ENSG00000107165 HGNC:12450 UBIAD1 gene UBIAD1 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Schnyder type, 121800 False 1 0;0;100 4.43 False ENSG00000120942 ENSG00000120942 HGNC:30791 UNC119 gene UNC119 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone-rod dystrophy 24, OMIM:620342 False 1 0;0;100 4.43 False ENSG00000109103 ENSG00000109103 HGNC:12565 USH1C gene USH1C Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 18A, 602092;Usher syndrome type 1C, 276904;Eye Disorders False 1 0;0;100 4.43 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1G, 606943;Eye Disorders False 1 0;0;100 4.43 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 39, 613809;Usher syndrome type 2A, 276901;Eye Disorders False 1 0;0;100 4.43 False ENSG00000042781 ENSG00000042781 HGNC:12601 VCAN gene VCAN Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wagner syndrome 1, 143200;Eye Disorders False 1 0;0;100 4.43 False ENSG00000038427 ENSG00000038427 HGNC:2464 VIM gene VIM NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 30, pulverulent, 116300 False 1 0;0;100 4.43 False ENSG00000026025 ENSG00000026025 HGNC:12692 WDPCP gene WDPCP Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;Eye Disorders False 1 0;0;100 4.43 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR36 gene WDR36 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, G 609887 17353431;18172102;15677485 False 1 0;0;100 4.43 False ENSG00000134987 ENSG00000134987 HGNC:30696 WFS1 gene WFS1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Cataract 41, 116400;Wolfram-like syndrome, autosomal dominant, 614296;Wolfram syndrome, 222300;Eye Disorders False 1 0;0;100 4.43 False ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2D, 611383;Eye Disorders False 1 0;0;100 4.43 False ENSG00000095397 ENSG00000095397 HGNC:16361 WNT3 gene WNT3 Expert Review Red;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Tetraamelia Syndrome 1, TETAMS1, 273395 14872406 False 1 50;0;50 4.43 False ENSG00000108379 ENSG00000108379 HGNC:12782 WRAP73 gene WRAP73 Expert Review Red;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microspherophakia 33693649 False 1 0;50;50 4.43 False ENSG00000116213 ENSG00000116213 HGNC:12759 WRN gene WRN NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Werner syndrome, 277700 False 1 0;0;100 4.43 False ENSG00000165392 ENSG00000165392 HGNC:12791 WT1 gene WT1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072;Eye Disorders False 1 0;0;100 4.43 False ENSG00000184937 ENSG00000184937 HGNC:12796 XPA gene XPA Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700 False 1 0;0;100 4.43 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720 False 1 0;0;100 4.43 False ENSG00000154767 ENSG00000154767 HGNC:12816 ZEB1 gene ZEB1 NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 6, 613270;Corneal dystrophy, posterior polymorphous, 3, 609141 False 1 0;0;100 4.43 False ENSG00000148516 ENSG00000148516 HGNC:11642 ZNF408 gene ZNF408 Expert list Structural eye disease Ophthalmology Unknown Retinitis pigmentosa 72, OMIM:616469 30998249 False 1 0;0;100 4.43 False ENSG00000175213 ENSG00000175213 HGNC:20041 ZNF423 gene ZNF423 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephronophthisis 14, 614844;Joubert syndrome 19, 614844;Eye Disorders False 1 0;0;100 4.43 False ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF513 gene ZNF513 Expert Review Red;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 58, 613617;Eye Disorders False 1 0;0;100 4.43 False ENSG00000163795 ENSG00000163795 HGNC:26498