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
GRHL2	gene	GRHL2	Expert Review Red;Genomics England PanelApp	Congenital ophthalmoplegia		Ophthalmological disorders	Unknown	Fibrosis of extraocular muscles, congenital				29110737		False	1	0;0;100	1.8	True		ENSG00000083307	ENSG00000083307	HGNC:2799													
TUBB2B	gene	TUBB2B	Expert Review Red;Genomics England PanelApp	Congenital ophthalmoplegia		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fibrosis of extraocular muscles, congenital;Cortical dysplasia, complex, with other brain malformations 7				23001566;11425694		False	1	0;50;50	1.8	True		ENSG00000137285	ENSG00000137285	HGNC:30829													
