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
AMPD1	gene	AMPD1	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen	Rhabdomyolysis and metabolic muscle disorders		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myopathy due to myoadenylate deaminase deficiency, OMIM:615511				25929793;15803807;23543093;19258857		False	1	33;0;67	5.17	False		ENSG00000116748	ENSG00000116748	HGNC:468													
CPT1B	gene	CPT1B	UKGTN	Rhabdomyolysis and metabolic muscle disorders		Neurology								False	1	0;0;0	5.17	False		ENSG00000205560	ENSG00000205560	HGNC:2329													
CYP2C8	gene	CYP2C8	Radboud University Medical Center, Nijmegen	Rhabdomyolysis and metabolic muscle disorders		Neurology	Unknown	{Drug metabolism, altered, CYP2C8-related}, OMIM:618018;Rhabdomyolysis, cerivastatin-induced				15365880;20739906		False	1	100;0;0	5.17	False		ENSG00000138115	ENSG00000138115	HGNC:2622													
FBP2	gene	FBP2	UKGTN	Rhabdomyolysis and metabolic muscle disorders		Neurology								False	1	0;0;100	5.17	False		ENSG00000130957	ENSG00000130957	HGNC:3607													
FKTN	gene	FKTN	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Rhabdomyolysis and metabolic muscle disorders		Neurology	BIALLELIC, autosomal or pseudoautosomal	"Fukuyama congenital muscular dystrophy; 	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	253800"				25929793		False	1	0;0;100	5.17	False		ENSG00000106692	ENSG00000106692	HGNC:3622													
PHKB	gene	PHKB	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Rhabdomyolysis and metabolic muscle disorders		Neurology	BIALLELIC, autosomal or pseudoautosomal	"Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	261750"				9215682;30397902		False	1	0;0;100	5.17	False		ENSG00000102893	ENSG00000102893	HGNC:8927													
PHKG1	gene	PHKG1	UKGTN	Rhabdomyolysis and metabolic muscle disorders		Neurology								False	1	0;0;100	5.17	False		ENSG00000164776	ENSG00000164776	HGNC:8930													
SLC22A12	gene	SLC22A12	Expert Review;Expert Review Red	Rhabdomyolysis and metabolic muscle disorders		Neurology	BIALLELIC, autosomal or pseudoautosomal	"Hypouricemia, renal	220150"						False	1	0;0;100	5.17	False		ENSG00000197891	ENSG00000197891	HGNC:17989													
SLC2A9	gene	SLC2A9	Expert Review;Expert Review Red	Rhabdomyolysis and metabolic muscle disorders		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Hypouricemia, renal, 2	612076;{Uric acid concentration, serum, QTL 2}	612076"						False	1	0;0;100	5.17	False		ENSG00000109667	ENSG00000109667	HGNC:13446													
TSEN54	gene	TSEN54	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Rhabdomyolysis and metabolic muscle disorders		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2A, OMIM:277470				23177318;25929793		False	1	0;0;100	5.17	False		ENSG00000182173	ENSG00000182173	HGNC:27561													
XPNPEP3	gene	XPNPEP3	Literature	Rhabdomyolysis and metabolic muscle disorders		Neurology	BIALLELIC, autosomal or pseudoautosomal	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322				40953058		False	1	0;0;100	5.17	False		ENSG00000196236	ENSG00000196236	HGNC:28052