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
CACNB4	gene	CACNB4	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682; {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855;Episodic Ataxia						False	1	0;0;100	1.48	False		ENSG00000182389	ENSG00000182389	HGNC:1404													
CNBP	gene	CNBP	Eligibility statement prior genetic testing;Expert Review Red	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	Other	Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266						False	1	0;67;33	1.48	False		ENSG00000169714	ENSG00000169714	HGNC:13164													
DMPK	gene	DMPK	Eligibility statement prior genetic testing;Expert Review Red	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	Other	Myotonic dystrophy 1, OMIM:160900						False	1	67;0;33	1.48	False		ENSG00000104936	ENSG00000104936	HGNC:2933													
HSPG2	gene	HSPG2	Expert Review;Expert Review Red	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410;Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140						False	1	100;0;0	1.48	False		ENSG00000142798	ENSG00000142798	HGNC:5273													
KCNJ18	gene	KCNJ18	Expert Review Red;UKGTN	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders		Hypokalemic Periodic Paralysis, Type 1				20074522		False	1	33;0;67	1.48	False		-	ENSG00000260458	HGNC:39080													
KCNQ2	gene	KCNQ2	Expert Review Red;Radboud University Medical Center, Nijmegen	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders		Seizures, benign neonatal, 1, 121200; Myokymia, 121200; Epileptic encephalopathy, early infantile, 7, 613720						False	1	0;0;100	1.48	False		ENSG00000075043	ENSG00000075043	HGNC:6296