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
COL25A1	gene	COL25A1	Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH	Congenital fibrosis of the extraocular muscles		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Fibrosis of extraocular muscles, congenital, 5, OMIM:616219				25500261;35077597		False	3	50;50;0	2.3	False		ENSG00000188517	ENSG00000188517	HGNC:18603													
KIF21A	gene	KIF21A	Expert Review Green;Literature;Wessex and West Midlands GLH	Congenital fibrosis of the extraocular muscles		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fibrosis of extraocular muscles, congenital, 1, OMIM:135700;Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700				15621876;15621877;15223798;18332320		False	3	100;0;0	2.3	False		ENSG00000139116	ENSG00000139116	HGNC:19349													
MYF5	gene	MYF5	Expert list;Expert Review Green;Literature;NHS GMS	Congenital fibrosis of the extraocular muscles		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155				29887215;35186005		False	3	40;40;20	2.3	False	Other	ENSG00000111049	ENSG00000111049	HGNC:7565													
PHOX2A	gene	PHOX2A	Expert Review Green;Literature;Wessex and West Midlands GLH	Congenital fibrosis of the extraocular muscles		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Fibrosis of extraocular muscles, congenital, 2, OMIM:602078				11600883;14597037;22311481		False	3	50;50;0	2.3	False		ENSG00000165462	ENSG00000165462	HGNC:691													
TUBB3	gene	TUBB3	Expert Review Green;Literature;Wessex and West Midlands GLH	Congenital fibrosis of the extraocular muscles		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638				20074521;27428177		False	3	50;50;0	2.3	False		ENSG00000258947	ENSG00000258947	HGNC:20772													
GRHL2	gene	GRHL2	Expert Review Red;Wessex and West Midlands GLH	Congenital fibrosis of the extraocular muscles		Ophthalmology	Unknown	congenital fibrosis of extraocular muscles, MONDO:0007614				29110737		False	1	0;0;100	2.3	False		ENSG00000083307	ENSG00000083307	HGNC:2799													
TUBB2B	gene	TUBB2B	Expert Review Red;Literature;Wessex and West Midlands GLH	Congenital fibrosis of the extraocular muscles		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital fibrosis of extraocular muscles, MONDO:0007614				23001566;11425694		False	1	0;50;50	2.3	False		ENSG00000137285	ENSG00000137285	HGNC:30829