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;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brody myopathy 601003			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	32040565		False	3	100;0;0	1.1	True		ENSG00000196296	ENSG00000196296	HGNC:811													
CACNA1S	gene	CACNA1S	Expert Review Green;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Malignant hyperthermia susceptibility type 5;Hypokalemic periodic paralysis, type 1, 170400			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	8004673;11591859		False	3	100;0;0	1.1	True		ENSG00000081248	ENSG00000081248	HGNC:1397													
CLCN1	gene	CLCN1	Expert Review Green;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Myotonia congenita, dominant, 160800;Hyperkalemic Periodic Paralysis;Myotonia Congenita;Myotonia;Myotonia congenita, recessive, 255700;Myotonia levior, recessive			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	1379744;7981750;8533761		False	3	100;0;0	1.1	True		ENSG00000188037	ENSG00000188037	HGNC:2019													
KCNA1	gene	KCNA1	Expert Review Green;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	EA1;Episodic ataxia/myokymia syndrome, 160120;Myokymia;Episodic Ataxia;Episodic Ataxia, Type 1			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	11026449		False	3	100;0;0	1.1	True	Other	ENSG00000111262	ENSG00000111262	HGNC:6218													
KCNJ2	gene	KCNJ2	Expert Review Green;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypokalemic Periodic Paralysis, Type 2;Periodic paralysis;Andersen syndrome, MIM# 170390;Episodic weakness;Andersen syndrome			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	11371347;12796536		False	3	100;0;0	1.1	True		ENSG00000123700	ENSG00000123700	HGNC:6263													
RYR1	gene	RYR1	Expert list;Expert Review Green;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Malignant hyperthermia			Periodic paralysis;HP:0003768; Myotonia;HP:0002486			False	3	100;0;0	1.1	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
SCN4A	gene	SCN4A	Expert Review Green;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis, type 2, 613;Thyrotoxic Periodic Paralysis, Susceptibility To, 2;Hypokalemic Periodic Paralysis;Episodic weakness;Myotonia;Potassium-Aggravated Myotonia;Hyperkalemic periodic paralysis, type 2, 170500;Myasthenic syndrome, acetazolamide-responsive, 614198			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	8385748;11591859		False	3	100;0;0	1.1	True		ENSG00000007314	ENSG00000007314	HGNC:10591													
ATP1A2	gene	ATP1A2	Expert list;Expert Review Red;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypokalaemic periodic paralysis			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	30423015		False	1	0;0;100	1.1	True		ENSG00000018625	ENSG00000018625	HGNC:800													
CACNB1	gene	CACNB1	Expert list;Expert Review Red;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders		?Malignant hyperthermia susceptibility			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	27832566;8943043;29212769		False	1	0;0;100	1.1	True		ENSG00000067191	ENSG00000067191	HGNC:1401													
CASQ1	gene	CASQ1	Expert Review Red;Royal Melbourne Hospital	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231			Periodic paralysis;HP:0003768; Myotonia;HP:0002486			False	1	0;0;100	1.1	True		ENSG00000143318	ENSG00000143318	HGNC:1512													
KCNE3	gene	KCNE3	Expert list;Expert Review Red;Victorian Clinical Genetics Services	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periodic paralysis			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	14504341;11207363;16449802;15037716;20051516;28356343		False	1	0;0;100	1.1	True		ENSG00000175538	ENSG00000175538	HGNC:6243													
KCNJ18	gene	KCNJ18	Expert list;Expert Review;Expert Review Red	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypokalemic periodic paralysis;{Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	25882930;27178871;20074522;27008341		False	1	0;0;100	1.1	True		-	ENSG00000260458	HGNC:39080													
KCNJ5	gene	KCNJ5	Expert list;Expert Review Red	Skeletal Muscle Channelopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Andersen-Tawil Syndrome;periodic muscle paralysis			Periodic paralysis;HP:0003768; Myotonia;HP:0002486	24574546		False	1	0;0;100	1.1	True		ENSG00000120457	ENSG00000120457	HGNC:6266