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	1.11	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	1.11	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	1.11	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	1.11	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	1.11	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	1.11	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	1.11	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	1.11	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	1.11	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	1.11	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	1.11	False		ENSG00000107165	ENSG00000107165	HGNC:12450