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 ABCB6 gene ABCB6 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, isolated, with coloboma 7, 614497;[Blood group, Langereis system], 111600;Dyschromatosis universalis hereditaria 3, 615402 22226084 False 3 100;0;0 4.40 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000115657 ENSG00000115657 HGNC:47 ACTB gene ACTB Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, 243310 2505231 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2, 614583 22366783 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000184009 ENSG00000184009 HGNC:144 ADAMTS10 gene ADAMTS10 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive 18567016;19836009;15368195 False 3 100;0;0 4.40 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) 19836009 False 3 100;0;0 4.40 False ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTS18 gene ADAMTS18 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 23818446 False 3 100;0;0 4.40 False ENSG00000140873 ENSG00000140873 HGNC:17110 ADAMTSL4 gene ADAMTSL4 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ectopia lentis et pupillae, 225200;Ectopia lentis, isolated, autosomal recessive, 225100 20141359;25975359;20702823 False 3 100;0;0 4.40 False ENSG00000143382 ENSG00000143382 HGNC:19706 ALDH1A3 gene ALDH1A3 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8 615113 23591992;24859610 False 3 100;0;0 4.40 False ENSG00000184254 ENSG00000184254 HGNC:409 ALX1 gene ALX1 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 3, OMIM:613456;frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271 20451171;23059813;32914578;27324866 False 3 80;20;0 4.40 False ENSG00000180318 ENSG00000180318 HGNC:1494 ANK3 gene ANK3 Expert Review Green;Literature;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal recessive 37, OMIM:615493 35034853;23390136;28687526;34218362 False 3 67;33;0 4.40 False ENSG00000151150 ENSG00000151150 HGNC:494 ARHGAP35 gene ARHGAP35 Expert Review Green;Literature;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anophthalmia;microphthalmia;coloboma 36450800 False 3 100;0;0 4.40 False ENSG00000160007 ENSG00000160007 HGNC:4591 ARR3 gene ARR3 Expert Review Green;Literature;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) Myopia 26, X-linked, female-limited, OMIM:301010;myopia 26, X-linked, female-limited, MONDO:0049221 35001458;33482870;27829781 False 3 67;33;0 4.40 False ENSG00000120500 ENSG00000120500 HGNC:710 ASPH gene ASPH Expert Review Green;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Traboulsi syndrome, OMIM:601552 31274573;24768550;31012784;34018898;30194805;33251883 False 3 100;0;0 4.40 False ENSG00000198363 ENSG00000198363 HGNC:757 ATOH7 gene ATOH7 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment;Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900 11493566;22068589;1838;8779 False 3 100;0;0 4.40 False ENSG00000179774 ENSG00000179774 HGNC:13907 B3GALNT2 gene B3GALNT2 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181 23453667 False 3 100;0;0 4.40 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GLCT gene B3GLCT Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome 261540;Eye Disorders 19796186;16909395;18798333 False 3 100;0;0 4.40 False ENSG00000187676 ENSG00000187676 HGNC:20207 BCOR gene BCOR Expert Review Green;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) Microphthalmia, syndromic 2, 300166 29974297;15004558;17517692 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000183337 ENSG00000183337 HGNC:20893 BEST1 gene BEST1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?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 21473666;15452077 False 3 100;0;0 4.40 False ENSG00000167995 ENSG00000167995 HGNC:12703 BMP4 gene BMP4 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Orofacial cleft 11, 600625;Microphthalmia, syndromic 6, 607932;BMP4-Related Syndromic Microphthalmia 18252212;2427285 False 3 50;50;0 4.40 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMPR1B gene BMPR1B Expert Review Green;Literature;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ocular coloboma 35034853 False 3 100;0;0 4.40 False ENSG00000138696 ENSG00000138696 HGNC:1077 C12orf57 gene C12orf57 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome, 218340 23453665 24859618 False 3 100;0;0 4.40 False ENSG00000111678 ENSG00000111678 HGNC:29521 CAPN15 gene CAPN15 Expert Review Green;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318;Microphthalmia, HP:0000568;Coloboma, HP:0000589 32885237;33410501 False 3 100;0;0 4.40 False ENSG00000103326 ENSG00000103326 HGNC:11182 CBS gene CBS Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200 24169224;11774777;21626167;7611293 False 3 100;0;0 4.40 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D2A gene CC2D2A Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360 19574260 False 3 100;0;0 4.40 False ENSG00000048342 ENSG00000048342 HGNC:29253 CDON gene CDON Expert list;Expert Review Green Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 11, OMIM:614226, MONDO:0013642 31502381;19754878;32729136 False 3 100;0;0 4.40 False ENSG00000064309 ENSG00000064309 HGNC:17104 CENPF gene CENPF Expert list;Expert Review Green Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605, MONDO:0009477 28407396;8261651;31953238;26820108 False 3 100;0;0 4.40 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP290 gene CEP290 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 6, 610189;Leber congenital amaurosis 10, 611755;Joubert syndrome 5, 610188;Meckel syndrome 4, 611134;?Bardet-Biedl syndrome 14, 615991 30055837, 22355252 False 3 100;0;0 4.40 False ENSG00000198707 ENSG00000198707 HGNC:29021 CHD7 gene CHD7 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, 214800 16400610 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000171316 ENSG00000171316 HGNC:20626 CHRDL1 gene CHRDL1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Megalocornea 1, X-linked, 309300 22284829 False 3 100;0;0 4.40 False ENSG00000101938 ENSG00000101938 HGNC:29861 CLDN19 gene CLDN19 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement, 248190 17033971;500385 False 3 100;0;0 4.40 False ENSG00000164007 ENSG00000164007 HGNC:2040 COL18A1 gene COL18A1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, OMIM:267750 17546652;22399687;19160445;28602933;28950998;10942434;30007336;19160445;18484314;12415512;19160445;28602933;28950998 False 3 100;0;0 4.40 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL4A1 gene COL4A1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780 30181649;24628545 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000187498 ENSG00000187498 HGNC:2202 CPAMD8 gene CPAMD8 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 8, 617319 27839872 False 3 100;0;0 4.40 False ENSG00000160111 ENSG00000160111 HGNC:23228 CREBBP gene CREBBP Expert Review Green;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 1, OMIM:180849 25599811;11004107;33629314;19938080;21480480 False 3 100;0;0 4.40 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRIM1 gene CRIM1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrophthalmia, Colobomatous, with microcornea, 602499 25561690;26681494;33418956;26681494;25561690 False 3 67;33;0 4.40 False ENSG00000150938 ENSG00000150938 HGNC:2359 CRYAA gene CRYAA Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 9, multiple types, OMIM:604219;Anterior segment dysgenesis, MONDO:0019503;microphthalmia, MONDO:0021129 30340470;17296897;18302245;32791987 False 3 100;0;0 4.40 False ENSG00000160202 ENSG00000160202 HGNC:2388 CRYBB1 gene CRYBB1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 17, multiple types, 611544 29386872;31566446;16110300 False 3 50;50;0 4.40 False ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 3, multiple types, OMIM:601547 29386872;25489230;21402992;2240043;9158139 False 3 60;40;0 4.40 False ENSG00000244752 ENSG00000244752 HGNC:2398 CRYGC gene CRYGC Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 2, multiple types (often with microcornea), 604307 29386872;24281366 False 3 100;0;0 4.40 False ENSG00000163254 ENSG00000163254 HGNC:2410 CYP1B1 gene CYP1B1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 6, multiple subtypes, OMIML617315;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, OMIM:231300;Primary Congenital Glaucoma 12372064;9463332;9097971;9497261 False 3 100;0;0 4.40 False ENSG00000138061 ENSG00000138061 HGNC:2597 DDX58 gene DDX58 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Singleton-Merten syndrome 2, OMIM:616298;Singleton-Merten syndrome 2, MONDO:0014575 25620203;30574673;33495304 False 3 100;0;0 4.40 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107201 ENSG00000107201 HGNC:19102 DOCK6 gene DOCK6 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Adams-Oliver Syndrome 2, AOS2, 614219 25824905 False 3 100;0;0 4.40 False ENSG00000130158 ENSG00000130158 HGNC:19189 DYRK1A gene DYRK1A Expert list;Expert Review Green Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 7, OMIM:614104 19081073;28135719;33562844;32838606 False 3 100;0;0 4.40 False ENSG00000157540 ENSG00000157540 HGNC:3091 EFEMP1 gene EFEMP1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, H, OMIM:611276 32476818;34923728;38083999 False 3 60;0;40 4.40 False ENSG00000115380 ENSG00000115380 HGNC:3218 EPHA2 gene EPHA2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 6, multiple types, OMIM:116600 33671840;35918037 False 3 40;40;20 4.40 False ENSG00000142627 ENSG00000142627 HGNC:3386 ESCO2 gene ESCO2 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal SC Phocomelia Syndrome, 269000 16380922;19574259 False 3 100;0;0 4.40 False ENSG00000171320 ENSG00000171320 HGNC:27230 FAT1 gene FAT1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal 12724416;30862798 False 3 100;0;0 4.40 False ENSG00000083857 ENSG00000083857 HGNC:3595 FBN1 gene FBN1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, 154700;Weill-Marchesani syndrome 2, dominant, 608328;MASS syndrome, 604308;Marfan lipodystrophy syndrome, 616914;Ectopia lentis, familial, 129600 1301946, 8136837 False 3 100;0;0 4.40 False ENSG00000166147 ENSG00000166147 HGNC:3603 FKTN gene FKTN Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800 False 3 100;0;0 4.40 False ENSG00000106692 ENSG00000106692 HGNC:3622 FOXC1 gene FOXC1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome, type 3 602482;Anterior segment dysgenesis 3, multiple subtypes 601631 12036988;17210863;9620769;10713890;11007653;12614756;32720677 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000054598 ENSG00000054598 HGNC:3800 FOXE3 gene FOXE3 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256;Cataract 34, multiple types, OMIM:612968 27218149;16826526;19708017;20140963;20664696;20361012;24019743;27669367;29878917;32436650;34046667;11159941;19708017;20806047;21150893;11980846;34046667 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000186790 ENSG00000186790 HGNC:3808 FRAS1 gene FRAS1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal FRASER SYNDROME 1 219000 12766769 False 3 100;0;0 4.40 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal MANITOBA OCULOTRICHOANAL SYNDROME 248450 21507892 False 3 100;0;0 4.40 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal FRASER SYNDROME 2 617666;Eye Disorders 15838507 False 3 100;0;0 4.40 False ENSG00000150893 ENSG00000150893 HGNC:25396 FZD5 gene FZD5 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma 11, OMIM:620731 26908622;32737437 False 3 50;50;0 4.40 False ENSG00000163251 ENSG00000163251 HGNC:4043 GDF6 gene GDF6 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, isolated 4, 613094;KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100;Microphthalmia with coloboma 6, digenic (with GDF3), 613703;Klippel-Feil syndrome 1, autosomal dominant, 118100 17236135, 20494911, 25457163, 24033328, 21070663 False 3 100;0;0 4.40 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000156466 ENSG00000156466 HGNC:4221 GJA1 gene GJA1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 15637728;25976645;21273537;30628995;24508941;16816024;29902798;34035645 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000152661 ENSG00000152661 HGNC:4274 GJA8 gene GJA8 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 1, multiple types, 116200 29464339;26694549 False 3 100;0;0 4.40 False ENSG00000121634 ENSG00000121634 HGNC:4281 GRIP1 gene GRIP1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal FRASER SYNDROME 3 617667;Eye Disorders 22510445 False 3 100;0;0 4.40 False ENSG00000155974 ENSG00000155974 HGNC:18708 HCCS gene HCCS Expert Review Green;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) Microphthalmia, syndromic 7, 309801;Linear skin defects with multiple congenital anomalies 1, 309801 24859618;17033964 False 3 100;0;0 4.40 False ENSG00000004961 ENSG00000004961 HGNC:4837 HHAT gene HHAT Expert list;Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Nivelon-Nivelon-Mabille syndrome, OMIM:600092 33749989;24784881 False 3 67;33;0 4.40 False ENSG00000054392 ENSG00000054392 HGNC:18270 HMX1 gene HMX1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome 612109 21417677;29140751;25574057;18423520 False 3 100;0;0 4.40 False ENSG00000215612 ENSG00000215612 HGNC:5017 IFIH1 gene IFIH1 Expert Review Green;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Singleton-Merten syndrome 1, OMIM:182250 29703882;31898846 False 3 100;0;0 4.40 False ENSG00000115267 ENSG00000115267 HGNC:18873 INPP5E gene INPP5E Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1, 213300;Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 30055837;23386033;23022135 False 3 100;0;0 4.40 False ENSG00000148384 ENSG00000148384 HGNC:21474 ISPD gene ISPD Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 22522421 False 3 100;0;0 4.40 False ENSG00000214960 ENSG00000214960 HGNC:37276 KDM6A gene KDM6A Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Kabuki syndrome 2, OMIM:300867;Kabuki syndrome 2, MONDO:0010465 22197486;29617172;29300383;23076834;24664873;36672956;23913813 False 3 80;20;0 4.40 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0586 gene KIAA0586 Expert list;Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23, OMIM:616490;Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546 28125082;30055837;36580738 False 3 75;25;0 4.40 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA1109 gene KIAA1109 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome 30485398;29290337 False 3 100;0;0 4.40 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIF11 gene KIF11 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, OMIM:152950 24281367;27212378 False 3 80;20;0 4.40 False ENSG00000138160 ENSG00000138160 HGNC:6388 KMT2D gene KMT2D Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, OMIM:147920;Coloboma;Microphthalmia 26049589 False 3 100;0;0 4.40 False ENSG00000167548 ENSG00000167548 HGNC:7133 LAMB2 gene LAMB2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199;Pierson syndrome, 609049 27130041;30778388;28188379;30120985;28683731;29450879 False 3 100;0;0 4.40 False ENSG00000172037 ENSG00000172037 HGNC:6487 LMX1B gene LMX1B Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome, OMIM:161200 False 3 50;0;50 4.40 False ENSG00000136944 ENSG00000136944 HGNC:6654 LRP2 gene LRP2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, 222448 8266995;18553518;17632512 False 3 100;0;0 4.40 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP5 gene LRP5 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal dominant 1, 607634;Osteoporosis-pseudoglioma syndrome, 259770;van Buchem disease, type 2;Exudative vitreoretinopathy 4, 601813;Eye Disorders 29131652;28111184;20034086 False 3 100;0;0 4.40 False ENSG00000162337 ENSG00000162337 HGNC:6697 LTBP2 gene LTBP2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Glaucoma 3, primary congenital, D 613086;Primary Congenital Glaucoma 19656777;19361779;21081970;20179738 False 3 100;0;0 4.40 False ENSG00000119681 ENSG00000119681 HGNC:6715 MAB21L2 gene MAB21L2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 14, 615877 24906020;25719200 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000181541 ENSG00000181541 HGNC:6758 MAF gene MAF Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 21, multiple types 610202 12642301;17982426 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000178573 ENSG00000178573 HGNC:6776 MAPRE2 gene MAPRE2 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Symmetric circumferential skin creases, congenital, 2, 616734 26637975;31903734;31502381 False 3 100;0;0 4.40 False ENSG00000166974 ENSG00000166974 HGNC:6891 MFRP gene MFRP Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Isolated Microphthalmia;Microphthalmia, isolated 5, 611040 29450879 False 3 100;0;0 4.40 False ENSG00000235718 ENSG00000235718 HGNC:18121 MIR204 gene MIR204 Expert Review Green;NHS GMS Structural eye disease 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 60;40;0 4.40 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 MITF gene MITF Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal COMMAD syndrome, 617306;Waardenburg syndrome, type 2a, WS2A, 193510 7874168;27889061;23787126 False 3 100;0;0 4.40 False ENSG00000187098 ENSG00000187098 HGNC:7105 MYOC gene MYOC Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1A, primary open angle, 137750 9697688;9005853;9328473;12522550;10330365;9535666;9345106 False 3 100;0;0 4.40 False ENSG00000034971 ENSG00000034971 HGNC:7610 MYRF gene MYRF Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nanophthalmos;High hyperopia 31266062;31048900;31172260;31700225 False 3 100;0;0 4.40 False ENSG00000124920 ENSG00000124920 HGNC:1181 NAA10 gene NAA10 Expert Review Green;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) Microphthalmia, syndromic 1, 309800 30842225;24431331 False 3 100;0;0 4.40 False other - please provide details in the comments ENSG00000102030 ENSG00000102030 HGNC:18704 NDP gene NDP Expert Review Green;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, 310600;Exudative vitreoretinopathy 2, X-linked, 305390;Eye Disorders 17334993;26130484;29321361;29617172 False 3 100;0;0 4.40 False ENSG00000124479 ENSG00000124479 HGNC:7678 NHS gene NHS Expert Review Green;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) Nance-Horan syndrome, 302350;Cataract 40, X-linked, 302200 28922055;17417607;23566852 False 3 100;0;0 4.40 False ENSG00000188158 ENSG00000188158 HGNC:7820 NR6A1 gene NR6A1 Expert Review Green;Literature;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma, MONDO:0001476;microphthalmia, MONDO:0021129 40610405 False 3 100;0;0 4.40 False Other ENSG00000148200 ENSG00000148200 HGNC:7985 NUP188 gene NUP188 Expert list;Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, OMIM:618804, MONDO:0032926 36158057;32021605;32275884 False 3 75;25;0 4.40 False ENSG00000095319 ENSG00000095319 HGNC:17859 OCRL gene OCRL Expert Review Green;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, OMIM:309000 19168822 False 3 50;50;0 4.40 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Joubert syndrome 10, OMIM:300804;Joubert syndrome 10, MONDO:0010431 28173652;35398350;30895720;28505061 False 3 60;40;0 4.40 False ENSG00000046651 ENSG00000046651 HGNC:2567 OTX2 gene OTX2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe, bilateral cases;OTX2-Related Syndromic Microphthalmia;Microphthalmia, syndromic 5, 610125 15846561;24859618;18781617 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000165588 ENSG00000165588 HGNC:8522 PACS1 gene PACS1 Expert list;Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schuurs-Hoeijmakers syndrome, OMIM:615009 29550517;26842493;34631081;34468556;34068396 False 3 67;33;0 4.40 False ENSG00000175115 ENSG00000175115 HGNC:30032 PAX2 gene PAX2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome 120330 10533062;8589702;22213154 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000075891 ENSG00000075891 HGNC:8616 PAX6 gene PAX6 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma of optic nerve, 120430;Peters anomaly, 604229;Coloboma, ocular, 120200;Optic nerve hypoplasia, 165550;Aniridia 106210;Foveal hypoplasia 1, 136520;?Morning glory disc anomaly, 120430;Keratitis, 148190;Anophthalmia;Cataract with late-onset corneal dystrohpy, 106210;Gillespie syndrome, 206700 17406642;11826019;1302030;19876904;17148041;8111379;9931324;7666404;17595013;12552561;7951315;11553050;7550230 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000007372 ENSG00000007372 HGNC:8620 PIGL gene PIGL Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, 280000;Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome 22444671 False 3 100;0;0 4.40 False ENSG00000108474 ENSG00000108474 HGNC:8966 PITX2 gene PITX2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Axenfeld-Rieger syndrome, type 1 180500;Anterior segment dysgenesis 4 137600 9685346;18723525;11487566;9618168;10051017;8944018 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment mesenchymal dysgenesis, 107250;Cataract 11, multiple types, 610623;Eye Disorders 29405783;9620774;20033184 False 3 100;0;0 4.40 False ENSG00000107859 ENSG00000107859 HGNC:9006 POMGNT1 gene POMGNT1 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280 0961548;19452620;28765568;11709191;19679478 False 3 100;0;0 4.40 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 12369018;15037715 False 3 100;0;0 4.40 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 15894594;28815891 False 3 67;33;0 4.40 False ENSG00000009830 ENSG00000009830 HGNC:19743 PORCN gene PORCN Expert Review Green;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) Focal dermal hypoplasia 305600 24859618;17546030 False 3 100;0;0 4.40 False ENSG00000102312 ENSG00000102312 HGNC:17652 PRR12 gene PRR12 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 29556724 False 3 100;0;0 4.40 False ENSG00000126464 ENSG00000126464 HGNC:29217 PRSS56 gene PRSS56 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 6, 613517 29450879 False 3 100;0;0 4.40 False ENSG00000237412 ENSG00000237412 HGNC:39433 PTCH1 gene PTCH1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7 (can include microphthalmia), 610828;Corneal opacification and other ocular anomalies, 269400 17001668;16024850;28496998;26893459 False 3 100;0;0 4.40 False ENSG00000185920 ENSG00000185920 HGNC:9585 PUF60 gene PUF60 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, 615583;PUF60 syndrome;Chromosome 8q24.3 deletion syndrome;VRJS;ocular abnormalities 27804958;24140112;28327570;19464398 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000179950 ENSG00000179950 HGNC:17042 PXDN gene PXDN Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Corneal opacification and other ocular anomalies, 269400 29450879;21907015;24939590 False 3 100;0;0 4.40 False ENSG00000130508 ENSG00000130508 HGNC:14966 RAB18 gene RAB18 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Warburg Micro Syndrome;Warburg micro syndrome 3, 614222 21473985 False 3 100;0;0 4.40 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, 600118;Warburg Micro Syndrome 21473985 False 3 100;0;0 4.40 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 23420520 False 3 100;0;0 4.40 False ENSG00000118873 ENSG00000118873 HGNC:17168 RARB gene RARB Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12, 615524 24859618 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000077092 ENSG00000077092 HGNC:9865 RAX gene RAX Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, OMIM:611038;isolated microphthalmia 3, MONDO:0012604 24033328;18783408;30811539;14662654 False 3 100;0;0 4.40 False ENSG00000134438 ENSG00000134438 HGNC:18662 RBP4 gene RBP4 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 25910211;9888420;27892788 False 3 100;0;0 4.40 False ENSG00000138207 ENSG00000138207 HGNC:9922 RERE gene RERE Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH, 616975 27087320;29330883 False 3 100;0;0 4.40 False ENSG00000142599 ENSG00000142599 HGNC:9965 RHOA gene RHOA Expert list;Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, MONDO:0032884;Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727 31821646;31570889;35178721 False 3 75;25;0 4.40 False ENSG00000067560 ENSG00000067560 HGNC:667 RIPK4 gene RIPK4 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 22197489;23074676;22197488 False 3 100;0;0 4.40 False ENSG00000183421 ENSG00000183421 HGNC:496 RPGRIP1L gene RPGRIP1L Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360 19574260 False 3 100;0;0 4.40 False ENSG00000103494 ENSG00000103494 HGNC:29168 SALL1 gene SALL1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks branchiootorenal-like syndrome, 107480 16088922;17221874;9973281 False 3 100;0;0 4.40 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, 607323 12843316;6426304 False 3 100;0;0 4.40 False ENSG00000101115 ENSG00000101115 HGNC:15924 SBF2 gene SBF2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B2 604563;CMT with early onset glaucoma 15304601;12687498 False 3 100;0;0 4.40 False ENSG00000133812 ENSG00000133812 HGNC:2135 SH3PXD2B gene SH3PXD2B Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome, 249420 29100834;20137777 False 3 100;0;0 4.40 False ENSG00000174705 ENSG00000174705 HGNC:29242 SHH gene SHH Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly-3, 142945;Schizencephaly, 269160;Single median maxillary central incisor, 147250;Microphthalmia with coloboma 5, 611638 20425842;12503095 False 3 100;0;0 4.40 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIX6 gene SIX6 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia with cataract 2, 212550;Anophthalmia/Microphthalmia;Optic disc anomalies with retinal and/or macular dystrophy, 212550 15266624;29450879;23167593;24702266 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000184302 ENSG00000184302 HGNC:10892 SLC25A24 gene SLC25A24 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome, OMIM;612289;Fontaine progeroid syndrome, MONDO:0012853 29903433;29100093;29100094;31775791 False 3 60;40;0 4.40 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC38A8 gene SLC38A8 Expert Review Green;NHS GMS Structural eye disease 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 24045842;32744312 False 3 100;0;0 4.40 False ENSG00000166558 ENSG00000166558 HGNC:32434 SLC4A4 gene SLC4A4 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities, 604278 10545938;11274232 False 3 100;0;0 4.40 False ENSG00000080493 ENSG00000080493 HGNC:11030 SMCHD1 gene SMCHD1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457 28067911;28067909 False 3 100;0;0 4.40 False ENSG00000101596 ENSG00000101596 HGNC:29090 SMG8 gene SMG8 Expert Review Green;Literature;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Alzahrani-Kuwahara syndrome, OMIM:619268 34761517;33242396 False 3 50;50;0 4.40 False ENSG00000167447 ENSG00000167447 HGNC:25551 SMO gene SMO Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Curry-Jones syndrome, somatic mosaic 601707 27236920 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies, 206920 30445150;21194678;21194680 False 3 100;0;0 4.40 False ENSG00000198732 ENSG00000198732 HGNC:20318 SOX2 gene SOX2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3 206900 12612584;24859618 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000181449 ENSG00000181449 HGNC:11195 SRD5A3 gene SRD5A3 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713 20637498;20700148;26219881 False 3 100;0;0 4.40 False ENSG00000128039 ENSG00000128039 HGNC:25812 STRA6 gene STRA6 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 9, 601186;Microphthalmia, isolated, with coloboma 8, 601186;Syndromic Microphthalmia, Recessive 24859618;17273977 False 3 100;0;0 4.40 False ENSG00000137868 ENSG00000137868 HGNC:30650 TBC1D20 gene TBC1D20 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, 615663 24239381 False 3 100;0;0 4.40 False ENSG00000125875 ENSG00000125875 HGNC:16133 TEK gene TEK Expert Review Green;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glaucoma 3, primary congenital, E, OMIM:617272 27270174 False 3 100;0;0 4.40 False ENSG00000120156 ENSG00000120156 HGNC:11724 TENM3 gene TENM3 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 15, OMIM:615145;?Microphthalmia, isolated, with coloboma 9, OMIM:615145;Microphthalmia, isolated, with coloboma 9, MONDO:0014059 30513139;24859618;29753094;27103084;22766609 False 3 100;0;0 4.40 False ENSG00000218336 ENSG00000218336 HGNC:29944 TFAP2A gene TFAP2A Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome , 113620;Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 19685247;18423521 False 3 100;0;0 4.40 False ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM216 gene TMEM216 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 2, 608091;Meckel syndrome 2, 603194;Meckel-Gruber syndrome 30055837;20512146 False 3 100;0;0 4.40 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM237 gene TMEM237 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 14, 614424 30055837;22152675 False 3 100;0;0 4.40 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM5 gene TMEM5 Expert Review Green;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 33199158;23217329;23519211 False 3 100;0;0 4.40 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360;Joubert syndrome 6, 610688;{Bardet-Biedl syndrome 14, modifer of}, 615991;Meckel syndrome 3, 607361;COACH syndrome, 216360;Nephronophthisis 11, 613550 30055837;19058225 False 3 100;0;0 4.40 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM98 gene TMEM98 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nanophthalmos 4, OMIM:615972;Nanophthalmos 4, MONDO:0014426 24852644;26392740 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000006042 ENSG00000006042 HGNC:24529 TOMM7 gene TOMM7 Expert Review Green;Literature;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, OMIM:620601 39615461 False 3 100;0;0 4.40 False ENSG00000196683 ENSG00000196683 HGNC:21648 TUBGCP4 gene TUBGCP4 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 25817018 False 3 100;0;0 4.40 False ENSG00000137822 ENSG00000137822 HGNC:16691 VSX2 gene VSX2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 2, OMIM:610093;Microphthalmia/coloboma 3, OMIM:610092 20414678;10932181 False 3 100;0;0 4.40 False ENSG00000119614 ENSG00000119614 HGNC:1975 WDR37 gene WDR37 Expert Review Green;Other Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown corneal opacity;Peters anomaly;coloboma;microcornea;Neurooculocardiogenitourinary syndrome, OMIM:61865, MONDO:0032850 31327510;31327508 False 3 50;50;0 4.40 False ENSG00000047056 ENSG00000047056 HGNC:31406 WLS gene WLS Expert list;Expert Review Green;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Zaki syndrome, OMIM:619648 34587386;25715397 False 3 67;33;0 4.40 False ENSG00000116729 ENSG00000116729 HGNC:30238 YAP1 gene YAP1 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, 120433;Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433;isolated ocular coloboma 24462371;27267789;28801591 False 3 100;0;0 4.40 False Other - please provide details in the comments ENSG00000137693 ENSG00000137693 HGNC:16262 ZEB2 gene ZEB2 Expert Review Green;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730 16053902 False 3 100;0;0 4.40 False ENSG00000169554 ENSG00000169554 HGNC:14881 AIPL1 gene AIPL1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy;Leber congenital amaurosis 4, 604393;Retinitis pigmentosa, juvenile;Eye Disorders 25148430 False 2 0;100;0 4.40 False ENSG00000129221 ENSG00000129221 HGNC:359 BMP7 gene BMP7 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability;None 20506283;7590254 False 2 0;100;0 4.40 False other - please provide details in the comments ENSG00000101144 ENSG00000101144 HGNC:1074 BMPR1A gene BMPR1A Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 29522511 False 2 0;100;0 4.40 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRPF1 gene BRPF1 Expert list;Expert Review Amber Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333 33418956;31176769 False 2 0;100;0 4.40 False ENSG00000156983 ENSG00000156983 HGNC:14255 C16orf62 gene C16orf62 Expert Review Amber;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 31712251 False 2 0;100;0 4.40 False ENSG00000103544 ENSG00000103544 HGNC:24641 CDH2 gene CDH2 Expert Review Amber;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929;Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 31585109;31650526 False 2 0;100;0 4.40 False ENSG00000170558 ENSG00000170558 HGNC:1759 CDH4 gene CDH4 Expert Review Amber;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Iris coloboma, intellectual disability, and microcephaly 35034853;15918170 False 2 0;100;0 4.40 False ENSG00000179242 ENSG00000179242 HGNC:1763 CDK5RAP2 gene CDK5RAP2 Expert list;Expert Review Amber Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, OMIM:604804, MONDO:0011488 31355417;32015000 False 2 0;100;0 4.40 False ENSG00000136861 ENSG00000136861 HGNC:18672 CNNM4 gene CNNM4 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Jalili syndrome, 217080;Eye Disorders 27419834 False 2 0;100;0 4.40 False ENSG00000158158 ENSG00000158158 HGNC:105 COL2A1 gene COL2A1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, with myopia and deafness;Eye Disorders;SED congenita;Kniest dysplasia, 156550;Stickler syndrome, type I, 108300;Stickler sydrome, type I, nonsyndromic ocular, 609508;Vitreoretinopathy with phalangeal epiphyseal dysplasia 18541977, 17347327 False 2 0;100;0 4.40 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL6A3 gene COL6A3 Expert Review Amber;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peters anomaly 33304895 False 2 0;100;0 4.40 False ENSG00000163359 ENSG00000163359 HGNC:2213 COX7B gene COX7B Expert Review Amber;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 2, LSDMCA2, 300887 23122588 False 2 50;50;0 4.40 False ENSG00000131174 ENSG00000131174 HGNC:2291 CRB1 gene CRB1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa-12, autosomal recessive, 600105;Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis 8, 613835;Eye Disorders 23077403;21484995 False 2 0;100;0 4.40 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRYBA4 gene CRYBA4 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 23 (and microphthalmia in 1 case), 610425 16960806;20577656 False 2 0;100;0 4.40 False ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB3 gene CRYBB3 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 22, OMIM:609741 False 2 0;50;50 4.40 False ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGD gene CRYGD Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 4, Multiple Types, 115700 False 2 0;100;0 4.40 False ENSG00000118231 ENSG00000118231 HGNC:2411 DAG1 gene DAG1 Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 25934851;24052401 False 2 50;50;0 4.40 False ENSG00000173402 ENSG00000173402 HGNC:2666 EFTUD2 gene EFTUD2 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type, 610536 26118977 False 2 0;100;0 4.40 False ENSG00000108883 ENSG00000108883 HGNC:30858 ERCC1 gene ERCC1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758 17273966 False 2 0;100;0 4.40 False ENSG00000012061 ENSG00000012061 HGNC:3433 FANCL gene FANCL Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia, Complementation Group L, FANCL, 614083 25754594 False 2 50;50;0 4.40 False ENSG00000115392 ENSG00000115392 HGNC:20748 FKRP gene FKRP Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 606612 15121789;20675713;19955119;20236121 False 2 67;33;0 4.40 False ENSG00000181027 ENSG00000181027 HGNC:17997 FZD4 gene FZD4 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exudative vitreoretinopathy 1, 133780;Eye Disorders 30882657;28413837 False 2 0;100;0 4.40 False ENSG00000174804 ENSG00000174804 HGNC:4042 GDF3 gene GDF3 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Klippel-Feil syndrome 3, autosomal dominant, OMIM:613702;Klippel-Feil syndrome 3, autosomal dominant, MONDO:0013375;Microphthalmia with coloboma 6, OMIM:613703;microphthalmia, isolated, with coloboma 6, MONDO:0013376;Microphthalmia, isolated 7, OMIM:613704;isolated microphthalmia 7, MONDO:0013377 19864492;24281366;29260090 False 2 0;80;20 4.40 False other - please provide details in the comments ENSG00000184344 ENSG00000184344 HGNC:4218 GLI2 gene GLI2 Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 9, 610829 21204792;17096318 False 2 33;67;0 4.40 False ENSG00000074047 ENSG00000074047 HGNC:4318 HMGB3 gene HMGB3 Expert Review Amber;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) ?Microphthalmia, syndromic 13, 300915 24993872 False 2 0;100;0 4.40 False ENSG00000029993 ENSG00000029993 HGNC:5004 HNRNPC gene HNRNPC Expert Review Amber;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 74, OMIM:620688;microphthalmia, isolated, with coloboma, MONDO:0000170 37541189;40004505 False 2 0;100;0 4.40 False ENSG00000092199 ENSG00000092199 HGNC:5035 IGBP1 gene IGBP1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472 14556245 False 2 0;100;0 4.40 False ENSG00000089289 ENSG00000089289 HGNC:5461 IPO13 gene IPO13 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal 29700284 False 2 0;100;0 4.40 False ENSG00000117408 ENSG00000117408 HGNC:16853 KERA gene KERA Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cornea plana congenita, recessive, 217300 False 2 0;100;0 4.40 False ENSG00000139330 ENSG00000139330 HGNC:6309 MYH10 gene MYH10 Expert Review Amber;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;coloboma, MONDO:0001476 35980381;40044823 False 2 50;50;0 4.40 False ENSG00000133026 ENSG00000133026 HGNC:7568 NTN1 gene NTN1 Expert Review Amber;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma, MONDO:0001476;microphthalmia, MONDO:0021129 39648562;31162046 False 2 0;100;0 4.40 False ENSG00000065320 ENSG00000065320 HGNC:8029 OLFM2 gene OLFM2 Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral microphthalmia, short stature and facial dysmorphism;No OMIM 27844144;17122126 False 2 33;67;0 4.40 False ENSG00000105088 ENSG00000105088 HGNC:17189 PDE6D gene PDE6D Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665 24166846 False 2 0;100;0 4.40 False ENSG00000156973 ENSG00000156973 HGNC:8788 PDGFRA gene PDGFRA Expert Review Amber;Literature Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral chorioretinal coloboma, microphthalmia and global developmental delay 35034853 False 2 0;100;0 4.40 False ENSG00000134853 ENSG00000134853 HGNC:8803 PLK4 gene PLK4 Expert Review Amber;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171;microcephaly and chorioretinopathy 2, MONDO:0014516 25344692;25320347;27650967 False 2 0;100;0 4.40 False ENSG00000142731 ENSG00000142731 HGNC:11397 POMGNT2 gene POMGNT2 Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830 22958903 False 2 50;50;0 4.40 False ENSG00000144647 ENSG00000144647 HGNC:25902 PQBP1 gene PQBP1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, OMIM:309500;Renpenning syndrome, MONDO:0010653 31718390;17033686 False 2 0;100;0 4.40 False ENSG00000102103 ENSG00000102103 HGNC:9330 SALL2 gene SALL2 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Coloboma, ocular, autosomal recessive, 216820 24412933 False 2 0;100;0 4.40 False ENSG00000165821 ENSG00000165821 HGNC:10526 SCLT1 gene SCLT1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM);None 29450879;24285566;27894351;28486600;30425282;30237576 False 2 67;33;0 4.40 False ENSG00000151466 ENSG00000151466 HGNC:26406 SIX3 gene SIX3 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 2 157170 21976454;21940735;10369266 False 2 0;100;0 4.40 False ENSG00000138083 ENSG00000138083 HGNC:10889 SLC16A12 gene SLC16A12 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract, juvenile, with microcornea and glucosuria, 612018 False 2 0;100;0 4.40 False ENSG00000152779 ENSG00000152779 HGNC:23094 SLC2A1 gene SLC2A1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885 False 2 0;100;0 4.40 False ENSG00000117394 ENSG00000117394 HGNC:11005 SMAD4 gene SMAD4 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myhre syndrome, 139210 11977156;20735985 False 2 0;100;0 4.40 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMG9 gene SMG9 Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Heart and Brain Malformation Syndrome, HBMS, 616920 27018474 False 2 50;50;0 4.40 False ENSG00000105771 ENSG00000105771 HGNC:25763 TBC1D32 gene TBC1D32 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871 32573025;31130284;32060556;24285566;35875813 False 2 0;100;0 4.40 False ENSG00000146350 ENSG00000146350 HGNC:21485 TCOF1 gene TCOF1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1 (eyelid coloboma), 154500 10888597;8741923 False 2 0;100;0 4.40 False ENSG00000070814 ENSG00000070814 HGNC:11654 TMX3 gene TMX3 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, coloboma, micrognathia, diaphragmatic hernia;None 20485507 False 2 0;100;0 4.40 False ENSG00000166479 ENSG00000166479 HGNC:24718 TOGARAM1 gene TOGARAM1 Expert list;Expert Review Amber Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal TOGARAM1-related ciliopathy 32747439;32453716 False 2 0;100;0 4.40 False ENSG00000198718 ENSG00000198718 HGNC:19959 TSC2 gene TSC2 Expert list;Expert Review Amber Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2, OMIM:613254 33110010;11264130 False 2 0;100;0 4.40 False ENSG00000103197 ENSG00000103197 HGNC:12363 TUBB gene TUBB Expert Review Amber;London North GLH;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610 26637975 False 2 50;50;0 4.40 False ENSG00000196230 ENSG00000196230 HGNC:20778 VAX1 gene VAX1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 11, 614402 10601035;22095910 False 2 0;100;0 4.40 False ENSG00000148704 ENSG00000148704 HGNC:12660 VSX1 gene VSX1 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoconus 1, 148300;Corneal dystrophy, posterior polymorphous, 1, 122000;Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 15051220 False 2 0;100;0 4.40 False ENSG00000100987 ENSG00000100987 HGNC:12723 WNT2B gene WNT2B Expert Review Amber;Literature Structural eye disease Ophthalmology BIALLELIC, autosomal or pseudoautosomal Diarrhoea 9, OMIM:618168;microcornea;coloboma, MONDO:0001476 29909964;33526876 False 2 0;100;0 4.40 False ENSG00000134245 ENSG00000134245 HGNC:12781 ZIC2 gene ZIC2 Expert Review Amber;NHS GMS Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5, 609637 21976454 False 2 0;100;0 4.40 False ENSG00000043355 ENSG00000043355 HGNC:12873 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 False ENSG00000145476 ENSG00000145476 HGNC:23198 CYP51A1 gene CYP51A1 NHS GMS Structural eye disease Ophthalmology False 1 0;0;100 4.40 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 4.40 False ENSG00000011465 ENSG00000011465 HGNC:2705 DDB1 gene DDB1 Expert Review Red;NHS GMS Structural eye disease Ophthalmology 17129780 False 1 0;0;100 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 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 4.40 False ENSG00000163795 ENSG00000163795 HGNC:26498 ISCA-37393-Gain region ClinGen;Expert Review Green Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 115470;PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome 22890013;11693792;22495764 False 3 0;0;0 4.40 False 22 16912063 18109094 3 60 cnv_gain 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37396-Loss region Expert Review Green;Expert list Structural eye disease Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 15q24 deletion syndrome, 613406;PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology;developmental delay, severe speech problems;PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features;PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia 22180641;19557438;19233321 False 3 100;0;0 4.40 False 15 72671374 75680568 3 60 cnv_loss 15q24 recurrent region (A-D) (includes SIN3A) Loss