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 CACNA1A gene CACNA1A Expert Review Green;UKGTN Infantile nystagmus Ocular movement disorders Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500 19182766 False 3 100;0;0 1.10 False ENSG00000141837 ENSG00000141837 HGNC:1388 DAGLA gene DAGLA Expert Review Green;Literature Infantile nystagmus Ocular movement disorders Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital nystagmus, MONDO:0005712 35737950 False 3 100;0;0 1.10 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134780 ENSG00000134780 HGNC:1165 FRMD7 gene FRMD7 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile nystagmus Ocular movement disorders Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) (not relevant if inheritance through paternal line);Nystagmus 1, congenital, X-linked, 310700; Nystagmus, infantile periodic alternating, X-linked, 310700;Infantile Nystagmus;Nystagmus 1, Congenital, X-Linked 17013395;17397053;17846367;24688117;21303855;18431453 False 3 100;0;0 1.10 False ENSG00000165694 ENSG00000165694 HGNC:8079 GPR143 gene GPR143 Expert Review Green;Radboud University Medical Center, Nijmegen Infantile nystagmus Ocular movement disorders Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ocular albinism, type I, Nettleship-Falls type, 300500;Nystagmus 6, congenital, X-linked, 300814;Ocular albinism, type I 26160353;26061757;21423867;21541274 False 3 100;0;0 1.10 False ENSG00000101850 ENSG00000101850 HGNC:20145 LRMDA gene LRMDA Expert Review Green Infantile nystagmus Ocular movement disorders Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VII PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11;PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism;23395477 False 3 100;0;0 1.10 False ENSG00000148655 ENSG00000148655 HGNC:23405 LYST gene LYST Expert Review Green Infantile nystagmus Ocular movement disorders Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal oculo-cutaneous albinism;Chediak-Higashi syndrome;optic neuropathy with progressive vision loss 8896560;9215679;10482950;20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency. False 3 100;0;0 1.10 False ENSG00000143669 ENSG00000143669 HGNC:1968 OCA2 gene OCA2 Expert Review Green Infantile nystagmus Ocular movement disorders Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculocutaneous Albinism;Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair;Skin/hair/eye pigmentation 1, blue/nonblue eyes False 3 100;0;0 1.10 False ENSG00000104044 ENSG00000104044 HGNC:8101 SLC24A5 gene SLC24A5 Expert Review Green Infantile nystagmus Ocular movement disorders Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VI;Non-Syndromic Oculocutaneous Albinism 23364476 - case report of patient of Chinese origin;27129268 - functional data to support the phenotypic effects of variants reported;26686029 case identified in a cohort South-Italian origin;23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism False 3 100;0;0 1.10 False ENSG00000188467 ENSG00000188467 HGNC:20611 SLC45A2 gene SLC45A2 Expert Review Green Infantile nystagmus Ocular movement disorders Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240;Oculocutaneous Albinism;Albinism, oculocutaneous, type IV False 3 100;0;0 1.10 False ENSG00000164175 ENSG00000164175 HGNC:16472 TYR gene TYR Expert Review Green Infantile nystagmus Ocular movement disorders Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, OMIM:203100;Albinism, oculocutaneous, type IB, OMIM:606952;Waardenburg syndrome/albinism, digenic, OMIM:103470 False 3 100;0;0 1.10 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Green Infantile nystagmus Ocular movement disorders Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculocutaneous Albinism;Albinism, oculocutaneous, type III False 3 100;0;0 1.10 False ENSG00000107165 ENSG00000107165 HGNC:12450