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
ASPH	gene	ASPH	Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	35697689		False	2	50;50;0	1.20	True		ENSG00000198363	ENSG00000198363	HGNC:757													
CHKB	gene	CHKB	Expert list;Expert Review Amber;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	megaconial type congenital muscular dystrophy MONDO:0011246;recurrent rhabdomyolysis;CHKB-Related Muscular Dystrophy			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	26782016;37011121;21665002;23692895;24997086		False	2	50;50;0	1.20	True		ENSG00000100288	ENSG00000100288	HGNC:1938													
ETFB	gene	ETFB	Expert Review Amber;Royal Melbourne Hospital	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIB 231680			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	12815589;7912128		False	2	0;100;0	1.20	True		ENSG00000105379	ENSG00000105379	HGNC:3482													
PACSIN3	gene	PACSIN3	Expert Review Amber;Literature	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myopathy, MONDO:0005336, PACSIN3-related			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	38637313		False	2	0;100;0	1.20	True		ENSG00000165912	ENSG00000165912	HGNC:8572													
SLC52A1	gene	SLC52A1	Expert list;Expert Review Amber;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Maternal riboflavin deficiency	MONDO:0014013"			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	37510312;29122468;21089064		False	2	0;50;50	1.20	True		ENSG00000132517	ENSG00000132517	HGNC:30225													
TNNT1	gene	TNNT1	Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Nemaline myopathy 5, Amish type	MIM#605355"			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	31970803		False	2	50;50;0	1.20	True		ENSG00000105048	ENSG00000105048	HGNC:11948													
TRPV1	gene	TRPV1	Expert Review Amber;Literature	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exertional heat stroke;rhabdomyolysis			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	32471784		False	2	0;33;67	1.20	True		ENSG00000196689	ENSG00000196689	HGNC:12716