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 ADIPOR1 gene ADIPOR1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000159346 ENSG00000159346 HGNC:24040 AP5B1 gene AP5B1 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal macular dystrophy, retinal, MONDO:0031166 40081374;41830174 False 2 67;33;0 8.123 False Other ENSG00000254470 ENSG00000254470 HGNC:25104 ASRGL1 gene ASRGL1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000162174 ENSG00000162174 HGNC:16448 BBIP1 gene BBIP1 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995;Bardet-Biedl syndrome 18, MONDO:0014446 24026985;32055034;37239474 False 2 33;33;33 8.123 False ENSG00000214413 ENSG00000214413 HGNC:28093 C12orf65 gene C12orf65 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035 False 2 0;100;0 8.123 False ENSG00000130921 ENSG00000130921 HGNC:26784 CCT2 gene CCT2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000166226 ENSG00000166226 HGNC:1615 CEP19 gene CEP19 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000174007 ENSG00000174007 HGNC:28209 CEP76 gene CEP76 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 8.123 False ENSG00000101624 ENSG00000101624 HGNC:25727 CLCC1 gene CLCC1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000121940 ENSG00000121940 HGNC:29675 CLUAP1 gene CLUAP1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000103351 ENSG00000103351 HGNC:19009 COQ5 gene COQ5 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;coenzyme q10 deficiency, primary, 9, MONDO:0033615 29044765;36266294;37599337;41199775 False 2 50;50;0 8.123 False ENSG00000110871 ENSG00000110871 HGNC:28722 CYP2R1 gene CYP2R1 Expert Review Amber;Literature;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal "Vogt-Koyanagi-Harada disease;Rickets due to defect in vitamin D 25-hydroxylation 600081" 27716192 False 2 50;0;50 8.123 False ENSG00000186104 ENSG00000186104 HGNC:20580 DMD gene DMD Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000198947 ENSG00000198947 HGNC:2928 EGFLAM gene EGFLAM Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital stationary night blindness, HP:0007642 18641643;41343198 False 2 50;50;0 8.123 False Other ENSG00000164318 ENSG00000164318 HGNC:26810 ELOVL1 gene ELOVL1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 False 2 0;100;0 8.123 False ENSG00000066322 ENSG00000066322 HGNC:14418 ESPN gene ESPN Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000187017 ENSG00000187017 HGNC:13281 EXOSC2 gene EXOSC2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000130713 ENSG00000130713 HGNC:17097 FRMD7 gene FRMD7 Expert Review Amber;Literature Retinal disorders Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Nystagmus 1, congenital, X-linked, OMIM:310700;Nystagmus, infantile periodic alternating, X-linked, OMIM:310700;foveal hypoplasia, MONDO:0044203 30025138;24688117;33531592;30015830;35157951 False 2 50;50;0 8.123 False ENSG00000165694 ENSG00000165694 HGNC:8079 FSD1L gene FSD1L Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200;neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 8.123 False Other ENSG00000106701 ENSG00000106701 HGNC:13753 GDF6 gene GDF6 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Klippel-Feil syndrome 1, autosomal dominant, 118100;Leber congenital amaurosis 17, 615360;Microphthalmia with coloboma 6, digenic, 613703;Microphthalmia, isolated 4, 613094 23307924;32737436 False 2 0;50;50 8.123 False ENSG00000156466 ENSG00000156466 HGNC:4221 GPATCH11 gene GPATCH11 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;retinal disorder, MONDO:0005283 39572588 False 2 0;100;0 8.123 False ENSG00000152133 ENSG00000152133 HGNC:26768 IFT81 gene IFT81 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485 28460050;26275418;27666822;32783357 False 2 0;100;0 8.123 False ENSG00000122970 ENSG00000122970 HGNC:14313 INTS11 gene INTS11 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 37054711;41810893 False 2 100;0;0 8.123 False Other ENSG00000127054 ENSG00000127054 HGNC:26052 KIF3B gene KIF3B Expert list;Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hepatic fibrosis;Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071;postaxial polydactyly 32386558 False 2 0;100;0 8.123 False ENSG00000101350 ENSG00000101350 HGNC:6320 LIG3 gene LIG3 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 2 50;50;0 8.123 False ENSG00000005156 ENSG00000005156 HGNC:6600 LRRC32 gene LRRC32 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 30976112;35656379;40721351;https://doi.org/10.1016/j.rare.2025.100101 False 2 33;67;0 8.123 False ENSG00000137507 ENSG00000137507 HGNC:4161 MAPKAPK3 gene MAPKAPK3 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000114738 ENSG00000114738 HGNC:6888 MDM1 gene MDM1 Expert Review Amber;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, HP:0000556 41742423 False 2 100;0;0 8.123 False Other ENSG00000111554 ENSG00000111554 HGNC:29917 MORC2 gene MORC2 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090;Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Retinal dystrophy, HP:0000556 26659848;32693025;36791574;39143067;40302207 False 2 100;0;0 8.123 False Other ENSG00000133422 ENSG00000133422 HGNC:23573 MT-TH gene MT-TH Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MITOCHONDRIAL False 2 0;100;0 8.123 False ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TP gene MT-TP Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MITOCHONDRIAL False 2 0;100;0 8.123 False ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TS2 gene MT-TS2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology MITOCHONDRIAL False 2 0;100;0 8.123 False ENSG00000210184 ENSG00000210184 HGNC:7498 OPN1SW gene OPN1SW Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000128617 ENSG00000128617 HGNC:1012 PAK2 gene PAK2 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome, OMIM:618458 33693784;38894571;39876536;39994693;40262506;40247748 False 2 100;0;0 8.123 False ENSG00000180370 ENSG00000180370 HGNC:8591 PAX6 gene PAX6 Eligibility statement prior genetic testing;Expert Review Amber;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Foveal hypoplasia 1, OMIM:136520;Microphthalmia/coloboma 12, OMIM:120200;?Coloboma of optic nerve, OMIM:120430;?Morning glory disc anomaly, OMIM:120430;Aniridia, OMIM:106210;Cataract with late-onset corneal dystrophy, OMIM:106210;Keratitis, OMIM:148190;Optic nerve hypoplasia, OMIM:165550;Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229 False 2 40;20;40 8.123 False ENSG00000007372 ENSG00000007372 HGNC:8620 PDE6H gene PDE6H Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Achromatopsia 6, OMIM:610024;achromatopsia 6, MONDO:0800197 15629837;22901948;25739440;27472364;35567543;36980963 False 2 25;75;0 8.123 False ENSG00000139053 ENSG00000139053 HGNC:8790 PGK1 gene PGK1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000102144 ENSG00000102144 HGNC:8896 POMGNT2 gene POMGNT2 Expert list;Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 22958903;27066570 False 2 0;100;0 8.123 False ENSG00000144647 ENSG00000144647 HGNC:25902 RDH11 gene RDH11 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;15634683;30731079;18326732;41904678;34988992;41459630;41904678 False 2 33;33;33 8.123 False ENSG00000072042 ENSG00000072042 HGNC:17964 RTN4IP1 gene RTN4IP1 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000130347 ENSG00000130347 HGNC:18647 SAMD11 gene SAMD11 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000187634 ENSG00000187634 HGNC:28706 SEMA4A gene SEMA4A Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 16199541 False 2 0;50;50 8.123 True ENSG00000196189 ENSG00000196189 HGNC:10729 SLC25A46 gene SLC25A46 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000164209 ENSG00000164209 HGNC:25198 SPG7 gene SPG7 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 False 2 0;100;0 8.123 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPP2 gene SPP2 Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000072080 ENSG00000072080 HGNC:11256 SPTLC1 gene SPTLC1 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macular telangiectasia type 2;vision loss 31509666 False 2 100;0;0 8.123 False ENSG00000090054 ENSG00000090054 HGNC:11277 TEAD1 gene TEAD1 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sveinsson chorioretinal atrophy, OMIM:108985;helicoid peripapillary chorioretinal degeneration, MONDO:0007176 15016762;26091538;33864784;40984966 False 2 33;67;0 8.123 False ENSG00000187079 ENSG00000187079 HGNC:11714 TTPA gene TTPA Expert Review Amber;NHS GMS;RetNet Retinal disorders Ophthalmology False 2 0;100;0 8.123 False ENSG00000137561 ENSG00000137561 HGNC:12404 UNC119 gene UNC119 Expert Review Amber;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 24, OMIM:620342;retinal disorder, MONDO:0005283 11006213;23563732;27079236;35947183;30910914 False 2 17;67;17 8.123 False ENSG00000109103 ENSG00000109103 HGNC:12565 VWA8 gene VWA8 Expert Review Amber;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Retinitis pigmentosa 97, OMIM:620422 37012052 False 2 0;100;0 8.123 False ENSG00000102763 ENSG00000102763 HGNC:29071