Genomics England

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (Version: )

Relevant disorders: Limb girdle muscular dystrophy, R82

Signed off date: 6 Dec 2023

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

59 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACADVL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAG3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAPN3	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_23_MOI
Green	CAV3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL6A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DES	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DMD	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DNAJB6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DOK7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYSF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMD	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	FHL1	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	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNC	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPDL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LAMA2	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	LMNA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTM1	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	MYH7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_MOI
Green	MYOT	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ORAI1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PFKM	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	PLEC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	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	SELENON	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIM1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SYNE1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNPO3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOR1AIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM32	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	VCP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VMA21	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (Version: 4.244.03.02.4)

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (Version: )