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 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 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 1.24 True ENSG00000074621 ENSG00000074621 HGNC:10975