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
  • Arrhythmogenic right ventricular cardiomyopathy
  • Progressive cardiac conduction disease
  • Brugada syndrome and cardiac sodium channel disease
Signed off date: 1 May 2024
Panel types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off
54 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Progressive cardiac conduction disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
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/ASkewed X-inactivation
Green
Dilated and arrhythmogenic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Progressive cardiac conduction disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Hypertrophic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
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/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Long QT syndrome
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
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/AN/A
Green
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/AN/A
Green
Hypertrophic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Afounder-effect
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Brugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A