Genomics England

Congenital muscular dystrophy (Version: )

Relevant disorders: R79

Signed off date: 4 Oct 2024

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

47 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BET1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAVIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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	DAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	DMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMPK_CTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DOLK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DTNA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	EMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
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	structural-variant
Green	GGPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOLGA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOSR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPA2B1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INPP5K	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITGA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_24_MOI
Green	PLEC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGLUT1	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	POMK	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	PYROXD1	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SELENON	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TRAPPC11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Congenital muscular dystrophy (Version: 4.294.244.234.03.02.2)

Congenital muscular dystrophy (Version: )