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
AMACR	gene	AMACR	Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	rhabdomyolysis			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	20921516		False	1	50;0;50	1.20	True		ENSG00000242110	ENSG00000242110	HGNC:451													
AMPD1	gene	AMPD1	Expert Review Red;Royal Melbourne Hospital	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myopathy due to myoadenylate deaminase deficiency 615511;Rhabdomyolysis			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123			False	1	0;0;100	1.20	True		ENSG00000116748	ENSG00000116748	HGNC:468													
COL4A1	gene	COL4A1	Expert list;Expert Review Green;Expert Review Red	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Recurrent rhabdomyolysis;infections;hypertrophic cardiomyopathy.			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	31540749		False	1	50;25;25	1.20	True		ENSG00000187498	ENSG00000187498	HGNC:2202													
FKTN	gene	FKTN	Expert Review Red;Royal Melbourne Hospital	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Fukuyama congenital muscular dystrophy			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123			False	1	0;0;100	1.20	True		ENSG00000106692	ENSG00000106692	HGNC:3622													
KCNJ11	gene	KCNJ11	Expert Review Red;Literature	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123			False	1	50;0;50	1.20	True		ENSG00000187486	ENSG00000187486	HGNC:6257													
MYH1	gene	MYH1	Expert Review Red;Literature	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	rhabdomyolysis, MONDO:0005290			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	33755318		False	1	0;0;100	1.20	True		ENSG00000109061	ENSG00000109061	HGNC:7567													
MYH3	gene	MYH3	Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	paresthesia;rhabdomyolysis			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	28779239		False	1	50;0;50	1.20	True		ENSG00000109063	ENSG00000109063	HGNC:7573													
PHKB	gene	PHKB	Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	9215682;30397902		False	1	50;0;50	1.20	True		ENSG00000102893	ENSG00000102893	HGNC:8927													
TRAPPC2L	gene	TRAPPC2L	Expert Review Red;Literature	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	30120216;32843486		False	1	0;50;50	1.20	True		ENSG00000167515	ENSG00000167515	HGNC:30887													
TSEN54	gene	TSEN54	Expert list;Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Pontocerebellar hypoplasia type 5 610204;Pontocerebellar hypoplasia type 4 225753;Pontocerebellar hypoplasia type 2A 277470			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	23177318		False	1	50;0;50	1.20	True		ENSG00000182173	ENSG00000182173	HGNC:27561													
TTN	gene	TTN	Expert list;Expert Review;Expert Review Green;Expert Review Red	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital titinopathy;exercise intolerance			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	31353864		False	1	67;0;33	1.20	True		ENSG00000155657	ENSG00000155657	HGNC:12403													
TYMP	gene	TYMP	Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Rhabdomyolysis and Metabolic Myopathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073			Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123	24199812		False	1	67;0;33	1.20	True		ENSG00000025708	ENSG00000025708	HGNC:3148