Genomics England

Sudden cardiac death (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Molecular autopsy, R138, R408

This panel contains these 8 panels:

Hypertrophic cardiomyopathy - teen and adult
Dilated cardiomyopathy - adult and teen
Short QT syndrome
Long QT syndrome
Catecholaminergic polymorphic VT
Arrhythmogenic cardiomyopathy
Progressive cardiac conduction disease
Brugada syndrome

Signed off date: 15 Oct 2020

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

See this panel in PanelApp

53 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTC1 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTC1 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN2 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN2 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BAG3 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1C Short QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	for-review
Green	CACNA1C Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1C Long QT syndrome	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	CALM1 Catecholaminergic polymorphic VT	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 Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CALM3 Catecholaminergic polymorphic VT	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 cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH2 Arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	for-review
Green	CSRP3 Hypertrophic cardiomyopathy - teen and adult	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 Arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DES Dilated cardiomyopathy - adult and teen	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DMD Dilated cardiomyopathy - adult and teen	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 cardiomyopathy - adult and teen	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2 Dilated cardiomyopathy - adult and teen	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2 Arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSG2 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSG2 Arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSP Arrhythmogenic cardiomyopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSP Dilated cardiomyopathy - adult and teen	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EMD Dilated cardiomyopathy - adult and teen	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 - teen and adult	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FHOD3 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLNC Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLNC Arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLNC Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLA Hypertrophic cardiomyopathy - teen and adult	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 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	HCN4 Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	JPH2 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	JUP Dilated cardiomyopathy - adult and teen	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	JUP 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	for-review
Green	KCNE2 Long QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	for-review
Green	KCNH2 Short QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KCNH2 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	KCNJ2 Long 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	KCNQ1 Short QT syndrome	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LAMP2 Dilated cardiomyopathy - adult and teen	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 Hypertrophic cardiomyopathy - teen and adult	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	LMNA Dilated cardiomyopathy - adult and teen	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	LMNA Arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYBPC3 Hypertrophic cardiomyopathy - teen and adult	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYBPC3 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH7 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH7 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYL2 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYL3 Hypertrophic cardiomyopathy - teen and adult	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NEXN Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-5 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX2-5 Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKP2 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKP2 Arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLN Arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	founder-effect
Green	PLN Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLN Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAG2 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAG2 Progressive cardiac conduction disease	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RBM20 Dilated cardiomyopathy - adult and teen	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	RYR2 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 Brugada syndrome	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN5A Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM43 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM43 Arrhythmogenic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNC1 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNC1 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNI3 Hypertrophic cardiomyopathy - teen and adult	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNI3 Dilated cardiomyopathy - adult and teen	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNI3K Dilated cardiomyopathy - adult and teen	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 - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNT2 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPM1 Hypertrophic cardiomyopathy - teen and adult	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPM1 Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRDN Catecholaminergic polymorphic VT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Dilated cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTR Hypertrophic cardiomyopathy - teen and adult	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 cardiomyopathy - adult and teen	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Sudden cardiac death (Version: 19.5519.617.39.78)

Sudden cardiac death (Version: )