Genomics England

Acute rhabdomyolysis (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R419

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease, GMS signed-off

53 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACAD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1S	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAV3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DYSF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENO3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCU	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LDHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MT-CO1	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2	MITOCHONDRIAL	N/A	gene-checked
Green	OBSCN	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PFKM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Acute rhabdomyolysis (Version: 1.71.0)

Acute rhabdomyolysis (Version: )