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 Green;Radboud University Medical Center, Nijmegen	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dyskinesia, familial, with facial myokymia, 606703						False	3	100;0;0	1.48	False		ENSG00000173175	ENSG00000173175	HGNC:236													
ATP1A2	gene	ATP1A2	Expert list;Expert Review Green	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Migraine, familial hemiplegic, 2, 602481;Alternating hemiplegia of childhood 1, 104290;Hypokalaemic periodic paralysis				30423015;15286158;18056581		False	3	100;0;0	1.48	False		ENSG00000018625	ENSG00000018625	HGNC:800													
ATP2A1	gene	ATP2A1	Expert list;Expert Review Green	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brody myopathy 601003				884119;8841193;9367679		False	3	100;0;0	1.48	False		ENSG00000196296	ENSG00000196296	HGNC:811													
CACNA1A	gene	CACNA1A	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	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	3	0;0;100	1.48	False		ENSG00000141837	ENSG00000141837	HGNC:1388													
CACNA1S	gene	CACNA1S	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypokalemic periodic paralysis, type 1, 170400				15534250;18835861;28012042		False	3	100;0;0	1.48	False		ENSG00000081248	ENSG00000081248	HGNC:1397													
CLCN1	gene	CLCN1	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Myotonia congenita, recessive, 255700; Myotonia congenita, dominant, 160800; Myotonia levior, recessive;Myotonia Congenita;Hyperkalemic Periodic Paralysis;Myotonia				11840191;18337100;22649220		False	3	100;0;0	1.48	False		ENSG00000188037	ENSG00000188037	HGNC:2019													
KCNA1	gene	KCNA1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Episodic ataxia/myokymia syndrome, 160120;Episodic Ataxia; Myokymia;Episodic Ataxia, Type 1; EA1						False	3	67;0;33	1.48	False		ENSG00000111262	ENSG00000111262	HGNC:6218													
KCNJ2	gene	KCNJ2	Eligibility statement prior genetic testing;Expert Review Green;UKGTN	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222;Episodic weakness;Periodic paralysis				16217063		False	3	100;0;0	1.48	False		ENSG00000123700	ENSG00000123700	HGNC:6263													
MT-ATP6	gene	MT-ATP6	Expert Review;Expert Review Green	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MITOCHONDRIAL							False	3	100;0;0	1.48	False		ENSG00000198899	ENSG00000198899	HGNC:7414													
MT-ATP8	gene	MT-ATP8	Expert Review;Expert Review Green	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MITOCHONDRIAL							False	3	100;0;0	1.48	False		ENSG00000228253	ENSG00000228253	HGNC:7415													
PYGM	gene	PYGM	Expert Review;Expert Review Green	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	McArdle disease, 232600						False	3	0;0;0	1.48	False		ENSG00000068976	ENSG00000068976	HGNC:9726													
RYR1	gene	RYR1	Expert Review;Expert Review Green	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal							False	3	100;0;0	1.48	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
SCN4A	gene	SCN4A	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperkalemic periodic paralysis, type 2, 170500;Myasthenic syndrome, acetazolamide-responsive, 614198;Hypokalemic periodic paralysis, type 2, 613;Potassium-Aggravated Myotonia;Hyperkalemic Periodic Paralysis;Hypokalemic Periodic Paralysis;Thyrotoxic Periodic Paralysis, Susceptibility To, 2;Myotonia;Episodic weakness				17395131;15534250		False	3	100;0;0	1.48	False		ENSG00000007314	ENSG00000007314	HGNC:10591													
SLC1A3	gene	SLC1A3	Expert Review Green;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	Episodic ataxia, type 6, 612656;Episodic Ataxia						False	3	0;0;100	1.48	False		ENSG00000079215	ENSG00000079215	HGNC:10941													
SLC2A1	gene	SLC2A1	Expert list;Expert Review Green	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epilepsy, idiopathic generalized, susceptibility to, 12, 614847;Can resemble skeletal muscle channelopathy;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).;GLUT1 deficiency syndrome 2, childhood onset, 612126;myotonia;dystonia				19630075;26598494;10980529		False	3	100;0;0	1.48	False		ENSG00000117394	ENSG00000117394	HGNC:11005													
CNBP_CCTG	str	CNBP	Expert Review Green;NHS GMS;Expert list	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266						False	3	67;0;33	1.48	False		ENSG00000169714	ENSG00000169714	HGNC:13164	3	128891420	128891499	129172577	129172656	CCTG	27	75					
DMPK_CTG	str	DMPK	Expert Review Green;NHS GMS;Expert list	Skeletal Muscle Channelopathies	Channelopathies	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 1, OMIM:160900						False	3	100;0;0	1.48	True		ENSG00000104936	ENSG00000104936	HGNC:2933	19	46273463	46273522	45770205	45770264	CTG	35	50