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
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	1.24	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	1.24	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	1.24	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	1.24	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	1.24	True		ENSG00000197535	ENSG00000197535	HGNC:7602