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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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;Oculovertebral syndrome, OMIM:621277;oculovertebral syndrome, MONDO:0979866 40610405;40774958;41733738 False 3 100;0;0 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 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 4.43 False ENSG00000043355 ENSG00000043355 HGNC:12873 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 4.43 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 4.43 False 15 72671374 75680568 3 60 cnv_loss 15q24 recurrent region (A-D) (includes SIN3A) Loss