Genomics England

Cardiac arrhythmias (Version: )

Relevant disorders: Cardiac arrythmias

This panel contains these 5 panels:

Long QT syndrome
Short QT syndrome
Catecholaminergic polymorphic VT
Cardiac arrhythmias - additional genes
Brugada syndrome and cardiac sodium channel disease

Signed off date: 22 Mar 2023

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

14 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
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	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 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	GNB5 Cardiac arrhythmias - additional genes	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 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 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	RYR2 Catecholaminergic polymorphic VT	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	SCN5A Long QT syndrome	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	TRDN Catecholaminergic polymorphic VT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Cardiac arrhythmias (Version: 13.411.16.27)

Cardiac arrhythmias (Version: )