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
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