Genomics England

Distal myopathies (Version: )

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

Signed off date: 30 Oct 2024

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

26 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTA1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ADSSL1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ANO5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR_CAG STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	BAG3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CNBP_CCTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CRYAB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DES	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYSF	BIALLELIC, autosomal or pseudoautosomal	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	FLNC	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSPB8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDB3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MATR3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYOT	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPX	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SQSTM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TIA1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TTN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	VCP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Distal myopathies (Version: 6.05.04.03.02.01.21)

Distal myopathies (Version: )