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
ATP2A1	gene	ATP2A1	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Brody myopathy OMIM:601003				8841193		False	3	100;0;0	3.8	False		ENSG00000196296	ENSG00000196296	HGNC:811													
CACNA1S	gene	CACNA1S	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital myopathy, MONDO:0019952;Hypokalaemic periodic paralysis, type I, OMIM:170400				28012042;19118277		False	3	50;50;0	3.8	False		ENSG00000081248	ENSG00000081248	HGNC:1397													
CLCN1	gene	CLCN1	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Myotonia congenita, dominant OMIM:160800;Myotonia congenita, recessive OMIM:255700				17932099		False	3	50;50;0	3.8	False		ENSG00000188037	ENSG00000188037	HGNC:2019													
KCNA1	gene	KCNA1	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Episodic ataxia type 1/myokymia syndrome OMIM:160120				19770477;17575281		False	3	100;0;0	3.8	False		ENSG00000111262	ENSG00000111262	HGNC:6218													
KCNJ2	gene	KCNJ2	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222;Episodic weakness;Periodic paralysis				16217063;12796536		False	3	50;50;0	3.8	False		ENSG00000123700	ENSG00000123700	HGNC:6263													
MT-ATP6	gene	MT-ATP6	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MITOCHONDRIAL	Can resemble skeletal muscle channelopathy				24153443		False	3	100;0;0	3.8	False		ENSG00000198899	ENSG00000198899	HGNC:7414													
MT-ATP8	gene	MT-ATP8	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MITOCHONDRIAL	Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency				24153443		False	3	100;0;0	3.8	False		ENSG00000228253	ENSG00000228253	HGNC:7415													
PYGM	gene	PYGM	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	McArdle disease OMIM:232600				21880526		False	3	50;0;50	3.8	False		ENSG00000068976	ENSG00000068976	HGNC:9726													
RYR1	gene	RYR1	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Central core disease, OMIM:117000 (Dominant & recessive);Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive);Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)				12136074;16163667;20839240		False	3	100;0;0	3.8	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
SCN4A	gene	SCN4A	Expert Review Green;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypokalemic periodic paralysis, type 2 OMIM:613345;Hyperkalemic periodic paralysis, type 2 OMIM:170500;Paramyotonia congenita OMIM:168300;Congenital myopathy MONDO:0019952.				18166706;15534250;19118277;26700687		False	3	50;50;0	3.8	False		ENSG00000007314	ENSG00000007314	HGNC:10591													
DMPK_CTG	str	DMPK	NHS GMS;Expert Review Green;Expert list	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 1, OMIM:160900				7825566		False	3	100;0;0	3.8	False		ENSG00000104936	ENSG00000104936	HGNC:2933	19	46273463	46273522	45770205	45770264	CTG	35	50					
CNBP_CCTG	str	CNBP	Expert Review Amber;NHS GMS;Expert list	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266				18807109		False	2	67;0;33	3.8	False		ENSG00000169714	ENSG00000169714	HGNC:13164	3	128891420	128891499	129172577	129172656	CCTG	27	75