Genomics England

Rhabdomyolysis and metabolic muscle disorders (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

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

Signed off date: 30 Nov 2022

Panel types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off

48 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	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	Q3_21_MOI
Green	CPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	Q1_22_MOI
Green	DMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
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	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_22_rating, Q3_22_expert_review
Green	GAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1	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	non-coding-known-pathogenic, to_be_confirmed_NHSE, for-review
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	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	Q2_22_expert_review, Q4_21_rating, Q4_21_phenotype
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	PRKAG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PYGM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1	BOTH monoallelic and 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	SUCLA2	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
Green	TSEN54	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_21_expert_review, Q2_21_rating
Green	TSFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Rhabdomyolysis and metabolic muscle disorders (Version: 5.04.03.02.01.34)

Rhabdomyolysis and metabolic muscle disorders (Version: )