Genomics England

Dilated and arrhythmogenic cardiomyopathy (Version: )

Relevant disorders: Dilated cardiomyopathy - adult and teen, R132

Signed off date: 30 Oct 2024

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

32 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BAG3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DES	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	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	Skewed X-inactivation
Green	DOLK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSP	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FLNC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	JUP	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	LMNA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYBPC3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	NEXN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKP2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RBM20	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RYR2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM43	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNI3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNI3K	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TTN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VCL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Dilated and arrhythmogenic cardiomyopathy (Version: 2.322.312.232.82.01.6)

Dilated and arrhythmogenic cardiomyopathy (Version: )