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
CASQ1	gene	CASQ1	Expert Review Amber;Literature	Acute rhabdomyolysis		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231				26136523;28895244;29039140;30258016;34908252;36514469		False	2	100;0;0	2.10	False		ENSG00000143318	ENSG00000143318	HGNC:1512													
MYH1	gene	MYH1	Expert Review Amber;Literature	Acute rhabdomyolysis		Neurology	BIALLELIC, autosomal or pseudoautosomal	rhabdomyolysis, MONDO:0005290				33755318		False	2	0;100;0	2.10	False		ENSG00000109061	ENSG00000109061	HGNC:7567													
POC5	gene	POC5	Expert Review Amber;Literature	Acute rhabdomyolysis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology;muscle cramps				29272404;40590205		False	2	100;0;0	2.10	False		ENSG00000152359	ENSG00000152359	HGNC:26658													
PRKAG2	gene	PRKAG2	Expert Review Amber;NHS GMS	Acute rhabdomyolysis		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic 6, OMIM:600858;Glycogen storage disease of heart, lethal congenital, OMIM:261740				3385534;16487706		False	2	0;100;0	2.10	False		ENSG00000106617	ENSG00000106617	HGNC:9386													
RBCK1	gene	RBCK1	Expert Review Amber;NHS GMS	Acute rhabdomyolysis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895				23798481;23889995;23104095;25041762;35017290		False	2	0;100;0	2.10	False		ENSG00000125826	ENSG00000125826	HGNC:15864													
RRM2B	gene	RRM2B	Expert Review Amber;NHS GMS	Acute rhabdomyolysis		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, OMIM:613077;Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075				19138848;21646632;19664747		False	2	0;100;0	2.10	False		ENSG00000048392	ENSG00000048392	HGNC:17296													
SUCLA2	gene	SUCLA2	Expert Review Amber;NHS GMS	Acute rhabdomyolysis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073				17301081;23010432;33231368		False	2	0;100;0	2.10	False		ENSG00000136143	ENSG00000136143	HGNC:11448