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
ADCY5	gene	ADCY5	Expert Review Red;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dyskinesia, familial, with facial myokymia, 606703				24700542		False	1	0;0;100	3.8	False		ENSG00000173175	ENSG00000173175	HGNC:236													
ATP1A2	gene	ATP1A2	Expert Review Red;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	hypokalaemic periodic paralysis MONDO:0008223				30423015		False	1	20;20;60	3.8	False		ENSG00000018625	ENSG00000018625	HGNC:800													
CACNA1A	gene	CACNA1A	Expert Review Red;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, OMIM:141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500				29442233;8734765;17575281		False	1	20;20;60	3.8	False		ENSG00000141837	ENSG00000141837	HGNC:1388													
CNBP	gene	CNBP	Expert Review Red;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	Other	Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266				18807109		False	1	100;0;0	3.8	False		ENSG00000169714	ENSG00000169714	HGNC:13164													
DMPK	gene	DMPK	Expert Review Red;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	Other	Myotonic dystrophy 1, OMIM:160900				7825566		False	1	100;0;0	3.8	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000104936	ENSG00000104936	HGNC:2933													
SLC1A3	gene	SLC1A3	Expert Review Red;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Episodic ataxia, type 6, OMIM:612656;episodic ataxia type 6, MONDO:0012982				16116111;19139306;25497598		False	1	25;0;75	3.8	False		ENSG00000079215	ENSG00000079215	HGNC:10941													
SLC2A1	gene	SLC2A1	Expert Review Red;London North GLH;NHS GMS	Skeletal muscle channelopathy		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847;GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777;GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126				19630075;26598494;10980529		False	1	20;20;60	3.8	False		ENSG00000117394	ENSG00000117394	HGNC:11005