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 AIPL1 gene AIPL1 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 4, MIM# 604393 10615133 False 3 100;0;0 1.22 True ENSG00000129221 ENSG00000129221 HGNC:359 AP3B1 gene AP3B1 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, MIM# 608233;MONDO:0011997 10024875;11809908;14566336 False 3 100;0;0 1.22 True ENSG00000132842 ENSG00000132842 HGNC:566 AP3D1 gene AP3D1 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 10, MIM# 617050;Oculocutaneous albinism;Severe neutropaenia;Recurrent infections;Seizures;Hearing loss;Neurodevelopmental delay 26744459;9697856;30472485 False 3 100;0;0 1.22 True ENSG00000065000 ENSG00000065000 HGNC:568 ATF6 gene ATF6 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 7 MIM#616517 26029869;26063662 False 3 100;0;0 1.22 True ENSG00000118217 ENSG00000118217 HGNC:791 BLOC1S3 gene BLOC1S3 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560 16385460;32687635;22709368 False 3 100;0;0 1.22 True ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S5 gene BLOC1S5 Expert Review Green;Genomics England PanelApp;Literature;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome, MONDO:0019312 32565547 False 3 100;0;0 1.22 True ENSG00000188428 ENSG00000188428 HGNC:18561 BLOC1S6 gene BLOC1S6 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 9, MIM# 614171 32245340;33543539;29054114;26575419;22461475;10610180 False 3 50;50;0 1.22 True ENSG00000104164 ENSG00000104164 HGNC:8549 CABP4 gene CABP4 Expert Review Green;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427 16960802;19074807;20157620 False 3 100;0;0 1.22 True ENSG00000175544 ENSG00000175544 HGNC:1386 CACNA1A gene CACNA1A Expert list;Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developemental and epileptic encephalopathy 42, MIM# 617106;Episodic ataxia, type 2, MIM# 108500;Migraine, familial hemiplegic, 1, MIM# 141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500;Spinocerebellar ataxia 6, MIM# 183086 19182766 False 3 67;33;0 1.22 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1F gene CACNA1F Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Aland Island eye disease, MIM# 300600;Cone-rod dystrophy, X-linked, 3, MIM# 300476 17525176;16505158;23776498;24124559 False 3 100;0;0 1.22 True ENSG00000102001 ENSG00000102001 HGNC:1393 CASK gene CASK Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, with or without nystagmus, MIM# 300422 19377476 False 3 100;0;0 1.22 True ENSG00000147044 ENSG00000147044 HGNC:1497 CEP290 gene CEP290 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 10, MIM# 611755 16909394;17554762;33957996;31734136 False 3 100;0;0 1.22 True ENSG00000198707 ENSG00000198707 HGNC:29021 CNGA3 gene CNGA3 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 2 MIM#216900 9662398;17265047;11536077 False 3 100;0;0 1.22 True ENSG00000144191 ENSG00000144191 HGNC:2150 CNGB3 gene CNGB3 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3 MIM#262300 17265047 False 3 100;0;0 1.22 True ENSG00000170289 ENSG00000170289 HGNC:2153 CRB1 gene CRB1 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 8, MIM# 613835 11231775;11389483;16543197 False 3 100;0;0 1.22 True ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 7, MIM# 613829 12208271;9931337;9537410;29568065;27427859;25270190 False 3 100;0;0 1.22 True ENSG00000105392 ENSG00000105392 HGNC:2383 DCT gene DCT Expert Review Green;Genomics England PanelApp;Literature;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism, type VIII, MIM# 619165 33100333 False 3 100;0;0 1.22 True ENSG00000080166 ENSG00000080166 HGNC:2709 DOHH gene DOHH Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 PMID: 35858628 False 3 100;0;0 1.22 True ENSG00000129932 ENSG00000129932 HGNC:28662 DTNBP1 gene DTNBP1 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7, MIM# 614076;MONDO:0013559 12923531;23364359;28259707;30990103 False 3 100;0;0 1.22 True ENSG00000047579 ENSG00000047579 HGNC:17328 FRMD7 gene FRMD7 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Nystagmus 1, congenital, X-linked, MIM# 310700;Nystagmus, infantile periodic alternating, X-linked, MIM# 310700 17013395;17397053;18431453;17846367;21303855;24688117 False 3 100;0;0 1.22 True ENSG00000165694 ENSG00000165694 HGNC:8079 GNAT2 gene GNAT2 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 4 MIM#613856 32203983;17251445 False 3 100;0;0 1.22 True ENSG00000134183 ENSG00000134183 HGNC:4394 GPR143 gene GPR143 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ocular albinism, type I, Nettleship-Falls type, MIM# 300500;MONDO:0021019;Nystagmus 6, congenital, X-linked, MIM# 300814 21541274;26061757;26160353;21423867;7647783;9529334;11793467;17516023;18523664;19390656 False 3 100;0;0 1.22 True ENSG00000101850 ENSG00000101850 HGNC:20145 GPR179 gene GPR179 Expert Review Green;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 22325361 False 3 100;0;0 1.22 True ENSG00000188888 ENSG00000277399 HGNC:31371 GRID2 gene GRID2 Expert Review Green;Literature Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18 MIM#616204 32622959 False 3 100;0;0 1.22 True ENSG00000152208 ENSG00000152208 HGNC:4576 GRM6 gene GRM6 Expert Review Green;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 22008250 False 3 100;0;0 1.22 True ENSG00000113262 ENSG00000113262 HGNC:4598 GUCY2D gene GUCY2D Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 1, MIM# 204000 8944027;16505055;23035049 False 3 100;0;0 1.22 True ENSG00000132518 ENSG00000132518 HGNC:4689 HPS1 gene HPS1 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, MIM# 203300;MONDO:0008748 9705234;10971344;9497254;7573033 False 3 100;0;0 1.22 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3, MIM# 614072;MONDO:0013555 11455388;31880485;31621111;30990103 False 3 100;0;0 1.22 True ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, MIM# 614073;MONDO:0013556 11836498;15108212;12664304 False 3 100;0;0 1.22 True ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 (MIM#614074) 12548288;18182080;27593200;26785811;28296950;32725903 False 3 100;0;0 1.22 True ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, MIM# 614075;MONDO:0013558 12548288;17041891;19843503 False 3 100;0;0 1.22 True ENSG00000166189 ENSG00000166189 HGNC:18817 KCNJ13 gene KCNJ13 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 16 MIM#614186 27203561;25475713;21763485 False 3 100;0;0 1.22 True ENSG00000115474 ENSG00000115474 HGNC:6259 LAMA1 gene LAMA1 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, OMIM:615960 29167897;28283601;32195884;25105227;328840387;33251915 False 3 100;0;0 1.22 True ENSG00000101680 ENSG00000101680 HGNC:6481 LRMDA gene LRMDA Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VII, MIM# 615179;MONDO:0014070 23395477 False 3 100;0;0 1.22 True ENSG00000148655 ENSG00000148655 HGNC:23405 LYST gene LYST Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM# 214500 20301751;9215679;10482950;8896560 False 3 100;0;0 1.22 True ENSG00000143669 ENSG00000143669 HGNC:1968 MTSS1L gene MTSS1L Expert Review Green;Literature Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086" PMID: 36067766 False 3 100;0;0 1.22 False ENSG00000132613 ENSG00000132613 HGNC:25094 NMNAT1 gene NMNAT1 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 9 MIM#608553;Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260 30004997;33668384;33308271;33308271;32150116;22842230;22842231;22842227;29184169 False 3 50;50;0 1.22 True ENSG00000173614 ENSG00000173614 HGNC:17877 NYX gene NYX Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked, 310500 11062471;11062472;16670814;23714322;34064005;34165036 False 3 100;0;0 1.22 True ENSG00000188937 ENSG00000188937 HGNC:8082 OCA2 gene OCA2 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, brown oculocutaneous, MIM# 203200;Albinism, oculocutaneous, type II, MIM# 203200 32741191;20301410 False 3 100;0;0 1.22 True ENSG00000104044 ENSG00000104044 HGNC:8101 PAX6 gene PAX6 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anterior segment dysgenesis 5, multiple subtypes 604229;Optic nerve hypoplasia 165550 AD;Foveal hypoplasia 1 136520 AD 15629294;9931324;8162071 False 3 100;0;0 1.22 True ENSG00000007372 ENSG00000007372 HGNC:8620 PDE6C gene PDE6C Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone dystrophy 4, MIM# 613093;Achromatopsia-5 19615668;30080950;19887631 False 3 100;0;0 1.22 True ENSG00000095464 ENSG00000095464 HGNC:8787 PDE6H gene PDE6H Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 6 MIM#610024 22901948 False 3 100;0;0 1.22 True ENSG00000139053 ENSG00000139053 HGNC:8790 PRPH2 gene PRPH2 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 18 MIM#608133 23847139;33712029 False 3 100;0;0 1.22 True ENSG00000112619 ENSG00000112619 HGNC:9942 RD3 gene RD3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 12 MIM#610612 23308101;22531706;17186464 False 3 100;0;0 1.22 True ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13, MIM# 612712 16269441;15322982;15258582;31505163 False 3 100;0;0 1.22 True ENSG00000139988 ENSG00000139988 HGNC:19977 RIMS2 gene RIMS2 Expert Review Green;Literature Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 32470375 False 3 100;0;0 1.22 True ENSG00000176406 ENSG00000176406 HGNC:17283 RPE65 gene RPE65 Expert list;Expert Review Green;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 2, 204100 12960219;14962443 False 3 100;0;0 1.22 True ENSG00000116745 ENSG00000116745 HGNC:10294 RPGRIP1 gene RPGRIP1 Expert list;Expert Review;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Leber congenital amaurosis 6, MIM# 613826;congenital nystagmus" 23505306 False 3 100;0;0 1.22 True ENSG00000092200 ENSG00000092200 HGNC:13436 SACS gene SACS Expert list;Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 False 3 100;0;0 1.22 True ENSG00000151835 ENSG00000151835 HGNC:10519 SETX gene SETX Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002 False 3 100;0;0 1.22 True ENSG00000107290 ENSG00000107290 HGNC:445 SLC24A5 gene SLC24A5 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VI, MIM# 113750 23364476;23985994;26491832 False 3 100;0;0 1.22 True ENSG00000188467 ENSG00000188467 HGNC:20611 SLC38A8 gene SLC38A8 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218;MONDO:0012216 32744312;24045842;29345414;24290379 False 3 100;0;0 1.22 True ENSG00000166558 ENSG00000166558 HGNC:32434 SLC45A2 gene SLC45A2 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IV, MIM# 606574;MONDO:0011683 11574907;14722913;14961451 False 3 100;0;0 1.22 True ENSG00000164175 ENSG00000164175 HGNC:16472 SPATA7 gene SPATA7 Expert list;Expert Review Green Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 3, MIM# 604232 19268277;21310915 False 3 100;0;0 1.22 True ENSG00000042317 ENSG00000042317 HGNC:20423 TRPM1 gene TRPM1 Expert Review Green;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 19878917;19896113;19896109 False 3 100;0;0 1.22 True ENSG00000134160 ENSG00000134160 HGNC:7146 TULP1 gene TULP1 Expert list;Expert Review;Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 15, MIM# 613843 15024725;17962469;24547928 False 3 100;0;0 1.22 True ENSG00000112041 ENSG00000112041 HGNC:12423 TYR gene TYR Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, MIM# 203100;Albinism, oculocutaneous, type IB, MIM# 606952 False 3 100;0;0 1.22 True ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III, MIM# 203290;MONDO:0008747 9345097 False 3 100;0;0 1.22 True ENSG00000107165 ENSG00000107165 HGNC:12450 USP45 gene USP45 Expert list;Expert Review Green;Literature Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis;retinal dystrophy 30573563 False 3 100;0;0 1.22 True ENSG00000123552 ENSG00000123552 HGNC:20080 AHR gene AHR Expert Review Amber;Genomics England PanelApp;Literature;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Foveal hypoplasia 3, MIM# 620958" 28851966;31009037;23301081 False 2 0;100;0 1.22 True ENSG00000106546 ENSG00000106546 HGNC:348 IMPDH1 gene IMPDH1 Expert list;Expert Review Amber Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis 11, MIM#613837 16384941 False 2 0;50;50 1.22 True ENSG00000106348 ENSG00000106348 HGNC:6052 LRAT gene LRAT Expert list;Expert Review Amber Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 14, MIM#613341 18055821;11381255 False 2 0;50;50 1.22 True ENSG00000121207 ENSG00000121207 HGNC:6685 MANBA gene MANBA Expert Review Amber;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nystagmus, autosomal dominant 30552791;25741867 False 2 0;100;0 1.22 True ENSG00000109323 ENSG00000109323 HGNC:6831 MYO5A gene MYO5A Expert Review Amber;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 1, MIM# 214450 32275080;33981514;22711375 False 2 50;50;0 1.22 True ENSG00000197535 ENSG00000197535 HGNC:7602 DGUOK gene DGUOK Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 12210798;12205643 False 1 0;0;100 1.22 True ENSG00000114956 ENSG00000114956 HGNC:2858 GDF6 gene GDF6 Expert list;Expert Review Red Congenital nystagmus Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 17, MIM# 615360 23307924 False 1 67;0;33 1.22 True ENSG00000156466 ENSG00000156466 HGNC:4221 GNAI3 gene GNAI3 Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ocular albinism 27607449 False 1 0;0;100 1.22 True ENSG00000065135 ENSG00000065135 HGNC:4387 GNAT1 gene GNAT1 Expert Review Red;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Night blindness, congenital stationary, autosomal dominant 3, IM# 610444;Night blindness, congenital stationary, type 1G, MIM# 616389 False 1 0;0;100 1.22 True ENSG00000114349 ENSG00000114349 HGNC:4393 GNB3 gene GNB3 Expert Review Red;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary, type 1H, MIM# 617024 27063057;17065478 False 1 0;0;100 1.22 True ENSG00000111664 ENSG00000111664 HGNC:4400 GRK1 gene GRK1 Expert Review Red;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease-2, 613411 False 1 0;0;100 1.22 True ENSG00000185974 ENSG00000185974 HGNC:10013 ITM2B gene ITM2B Expert list;Expert Review Red Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 24026677 False 1 0;0;100 1.22 True ENSG00000136156 ENSG00000136156 HGNC:6174 LRIT3 gene LRIT3 Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 23246293;27428514 False 1 50;0;50 1.22 True ENSG00000183423 ENSG00000183423 HGNC:24783 MITF gene MITF Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tietz albinism-deafness syndrome 103500 False 1 0;0;100 1.22 True ENSG00000187098 ENSG00000187098 HGNC:7105 MLPH gene MLPH Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 3, MIM# 609227 False 1 0;0;100 1.22 True ENSG00000115648 ENSG00000115648 HGNC:29643 PDE6B gene PDE6B Expert Review Red;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Night blindness, congenital stationary, autosomal dominant 2, 163500;Retinitis pigmentosa 17044014;24760071;8075643 False 1 0;0;100 1.22 True ENSG00000133256 ENSG00000133256 HGNC:8786 RAB27A gene RAB27A Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2 607624 AR False 1 0;0;100 1.22 True ENSG00000069974 ENSG00000069974 HGNC:9766 RDH5 gene RDH5 Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fundus albipunctatus, MIM# 136880 15790919;14718298;11812441;10369264 False 1 67;0;33 1.22 True ENSG00000135437 ENSG00000135437 HGNC:9940 RGS9 gene RGS9 Expert list;Expert Review Red Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bradyopsia MIM#608415 10676965;29107794;14702087 False 1 0;0;100 1.22 True ENSG00000108370 ENSG00000108370 HGNC:10004 RGS9BP gene RGS9BP Expert list;Expert Review Red Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bradyopsia MIM#608415 19818506;14702087 False 1 0;0;100 1.22 True ENSG00000186326 ENSG00000186326 HGNC:30304 RHO gene RHO Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445;Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731" 18487375;27812022;31213501;1303237 False 1 50;0;50 1.22 True ENSG00000163914 ENSG00000163914 HGNC:10012 ROBO1 gene ROBO1 Expert Review Red;Literature Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal nystagmus, congenital, autosomal recessive, MONDO:0009762 35348658 False 1 0;0;100 1.22 True ENSG00000169855 ENSG00000169855 HGNC:10249 ROM1 gene ROM1 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital nystagmus Ophthalmological disorders Other "Retinitis pigmentosa 7, digenic form, MIM# 608133" 8202715;32716032;30630813 False 1 50;0;50 1.22 True ENSG00000149489 ENSG00000149489 HGNC:10254 SAG gene SAG Expert Review Red;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease-1, MIM# 258100 7670478;9565049;15234147 False 1 0;0;100 1.22 True ENSG00000130561 ENSG00000130561 HGNC:10521 SLC24A1 gene SLC24A1 Expert Review Red;Royal Melbourne Hospital Congenital nystagmus Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 False 1 0;0;100 1.22 True ENSG00000074621 ENSG00000074621 HGNC:10975