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
CNBP	gene	CNBP	Expert Review;Expert Review Red;NHS GMS	Distal myopathies		Neurology	Other	Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266						False	1	50;0;50	6.18	False	Other - please provide details in the comments	ENSG00000169714	ENSG00000169714	HGNC:13164													
DMD	gene	DMD	Eligibility statement prior genetic testing;Expert Review Red	Distal myopathies		Neurology								False	1	0;0;0	6.18	False		ENSG00000198947	ENSG00000198947	HGNC:2928													
DMPK	gene	DMPK	Eligibility statement prior genetic testing;Expert Review Red	Distal myopathies		Neurology	Other	Myotonic dystrophy 1, OMIM:160900						False	1	100;0;0	6.18	False	Other - please provide details in the comments	ENSG00000104936	ENSG00000104936	HGNC:2933													
DUX4	gene	DUX4	Eligibility statement prior genetic testing;Expert Review Red	Distal myopathies		Neurology		FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)						False	1	0;0;0	6.18	False	Other - please provide details in the comments	ENSG00000258389	ENSG00000260596	HGNC:50800													
GIPC1	gene	GIPC1	Expert Review Red;Literature	Distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Oculopharyngodistal myopathy 2, OMIM:618940;oculopharyngodistal myopathy 2, MONDO:0030134				32413282;33374016		False	1	50;0;50	6.18	False	Other	ENSG00000123159	ENSG00000123159	HGNC:1226													
KLHL9	gene	KLHL9	Expert list;Expert Review Red	Distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	distal myopathy (no OMIM number)				20554658 		False	1	100;0;0	6.18	False		ENSG00000198642	ENSG00000198642	HGNC:18732													
GIPC1_GGC	str	GIPC1	Literature	Distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Oculopharyngodistal myopathy 2, OMIM:618940				32413282;33374016		False	1	100;0;0	6.18	False		ENSG00000123159	ENSG00000123159	HGNC:1226	19			14496041	14496074	GGC	32	73