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 list;Expert Review Amber	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Retinitis pigmentosa 85, OMIM:618345;retinitis pigmentosa 85, MONDO:0032689				28851966;23301081;29726989;31896775;31009037;33193710;35188035		False	2	0;100;0	4.6	False		ENSG00000106546	ENSG00000106546	HGNC:348													
AP3D1	gene	AP3D1	Expert Review Amber;NHS GMS	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Hermansky-Pudlak syndrome 10 617050 AR						False	2	0;100;0	4.6	False		ENSG00000065000	ENSG00000065000	HGNC:568													
CACNB3	gene	CACNB3	Expert Review Amber;Literature	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	infantile nystagmus				41822111		False	2	50;50;0	4.6	False		ENSG00000167535	ENSG00000167535	HGNC:1403													
CLCN7	gene	CLCN7	Expert Review Amber;Literature	Albinism or congenital nystagmus		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541				31155284		False	2	0;100;0	4.6	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000103249	ENSG00000103249	HGNC:2025													
DTNBP1	gene	DTNBP1	Expert Review Amber;NHS GMS	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 7 614076 AR						False	2	0;100;0	4.6	False		ENSG00000047579	ENSG00000047579	HGNC:17328													
MANBA	gene	MANBA	Expert Review Amber;NHS GMS	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, beta 248510 AR						False	2	0;100;0	4.6	False		ENSG00000109323	ENSG00000109323	HGNC:6831													
MLPH	gene	MLPH	Expert Review Amber;NHS GMS	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome, type 3, OMIM:609227;Griscelli syndrome type 3, MONDO:0012220				12897212;21883982;22711375;26337734;30389201;31721180;35602484		False	2	50;50;0	4.6	False		ENSG00000115648	ENSG00000115648	HGNC:29643													
MYO5A	gene	MYO5A	Expert Review Amber;NHS GMS	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome, type 1 214450 AR						False	2	0;100;0	4.6	False		ENSG00000197535	ENSG00000197535	HGNC:7602													
TULP1	gene	TULP1	Expert Review Amber;NHS GMS	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 15 613843 AR;Retinitis pigmentosa 14 600132 AR						False	2	0;100;0	4.6	False		ENSG00000112041	ENSG00000112041	HGNC:12423