Genomics England

Sudden unexplained death or survivors of a cardiac event (Version: )

Relevant disorders: Molecular autopsy, Sudden cardiac death, Sudden cardiac death PILOT, R138, R425

This panel contains these 8 panels:

Hypertrophic cardiomyopathy
Dilated and arrhythmogenic cardiomyopathy
Long QT syndrome
Short QT syndrome
Catecholaminergic polymorphic VT
Progressive cardiac conduction disease
Arrhythmogenic right ventricular cardiomyopathy
Brugada syndrome and cardiac sodium channel disease

Signed off date: 22 Mar 2023

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

54 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTC1 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTC1 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN2 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN2 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ALPK3 Hypertrophic cardiomyopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAG3 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1C Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1C Short QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1C Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM1 Catecholaminergic polymorphic VT	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM1 Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM2 Catecholaminergic polymorphic VT	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM2 Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM3 Catecholaminergic polymorphic VT	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CALM3 Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CASQ2 Catecholaminergic polymorphic VT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH2 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSRP3 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DES Progressive cardiac conduction disease	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DES Dilated and arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DES Arrhythmogenic right ventricular cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DMD Dilated and arrhythmogenic cardiomyopathy	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 Dilated and arrhythmogenic cardiomyopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2 Arrhythmogenic right ventricular cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2 Dilated and arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSG2 Arrhythmogenic right ventricular cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSG2 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSP Arrhythmogenic right ventricular cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSP Dilated and arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EMD Dilated and arrhythmogenic cardiomyopathy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EMD Progressive cardiac conduction disease	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FHL1 Hypertrophic cardiomyopathy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FHOD3 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLNC Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLNC Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLNC Arrhythmogenic right ventricular cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLA Progressive cardiac conduction disease	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	GLA Hypertrophic cardiomyopathy	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	HCN4 Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	JUP Arrhythmogenic right ventricular cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	JUP Dilated and arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNE1 Long QT syndrome	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	KCNH2 Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNH2 Short QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KCNJ2 Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNJ2 Short QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KCNQ1 Short QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ1 Long QT syndrome	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2 Hypertrophic cardiomyopathy	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	LAMP2 Progressive cardiac conduction disease	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	LAMP2 Dilated and arrhythmogenic cardiomyopathy	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 Arrhythmogenic right ventricular cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LMNA Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LMNA Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYBPC3 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYBPC3 Hypertrophic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	MYH7 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	MYL2 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYL3 Hypertrophic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NEXN Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-5 Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-5 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKP2 Arrhythmogenic right ventricular cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKP2 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLN Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLN Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLN Arrhythmogenic right ventricular cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	founder-effect
Green	PRKAG2 Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAG2 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RBM20 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RYR2 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RYR2 Catecholaminergic polymorphic VT	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN5A Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN5A Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN5A Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN5A Brugada syndrome and cardiac sodium channel disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TECRL Catecholaminergic polymorphic VT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM43 Arrhythmogenic right ventricular cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM43 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNC1 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNC1 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNI3 Hypertrophic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNI3 Dilated and arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNI3K Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNI3K Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT2 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNT2 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPM1 Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPM1 Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRDN Catecholaminergic polymorphic VT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM63 Hypertrophic cardiomyopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTN Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTR Hypertrophic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable
Green	TTR Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VCL Dilated and arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Sudden unexplained death or survivors of a cardiac event (Version: 19.617.39.78)

Sudden unexplained death or survivors of a cardiac event (Version: )