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This Panel is marked as Internal

Cardiac arrhythmias - previous panel (Version 1.12)


Relevant disorders: Cardiac arrythmias
Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel has been initially created as a merge of genomic entities from the following 4 panels:
Brugada syndrome v1.15
Long QT syndrome v1.8
Catecholaminergic polymorphic VT v1.4
Short QT syndrome v1.1


This was originally used for 'Cardiac arrhythmias'; however, this panel is now replaced by the new superpanel https://panelapp.genomicsengland.co.uk/panels/842/.
Panel Activity

2 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

44 Entities

5 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green List (high evidence)
ANK2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Brugada/Brugada like syndrome
  • Long QT syndrome-4
  • Long QT syndrome 4 600919
  • Cardiac arrhythmia, ankyrin-B-related 600919
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Green List (high evidence)
CACNA1C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • brugada syndrome
  • Brugada syndrome 3 611875
  • short qt
  • syncope
  • Brugada syndrome 3
  • scd
Tags
Green List (high evidence)
CACNB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • brugada syndrome
  • Short QT syndrome 5
  • Brugada syndrome 4 611876
  • Brugada syndrome 4
  • short qt
Tags
Green List (high evidence)
CALM1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
  • Long QT syndrome 14
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Green List (high evidence)
CALM2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Long QT syndrome 15, OMIM:616249
  • long QT syndrome 15, MONDO:0014550
Tags
Green List (high evidence)
CASQ2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
Tags
Green List (high evidence)
GPD1L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Brugada syndrome 2
Tags
Green List (high evidence)
HCN4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Brugada syndrome 8
Tags
Green List (high evidence)
KCNE1
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome-5
  • Long QT syndrome
Tags
Green List (high evidence)
KCNE2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Long QT syndrome-6
Tags
Green List (high evidence)
KCNE3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Brugada syndrome
  • Brugada syndrome 6
  • Long QT syndrome
Tags
Green List (high evidence)
KCNH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Brugada
  • Long QT syndrome 2 613688
  • cardiac arrest
  • ventricular fibrillation
  • Brugada/Brugada like syndrome
  • Long QT syndrome-2
  • short qt
  • Short QT syndrome 1 609620
  • atrial fibrillation
Tags
Green List (high evidence)
KCNJ2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • LONG QT SYNDROME 7 (170390)
  • ventricular tacyarrhythmia
  • Short QT syndrome 3 609622
  • short qt
  • catecholaminergic polymorphic ventricular tachycardia
  • ANDERSEN SYNDROME (170390)
  • atrial fibrillation
Tags
Green List (high evidence)
KCNJ5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Long QT syndrome 13
Tags
Green List (high evidence)
KCNQ1
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short QT-interval syndrome
  • Idiopathic Ventricular Fibrillation
  • Short QT syndrome 2 609621
  • Long QT syndrome-1
Tags
Green List (high evidence)
RYR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
  • Arrhythmogenic right ventricular cardiomyopathy
  • catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
Tags
Green List (high evidence)
SCN10A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • J wave syndrome
  • sudden death
  • short QT
Tags
Green List (high evidence)
SCN1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Brugada syndrome 5
Tags
Green List (high evidence)
SCN3B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Brugada syndrome 7
Tags
Green List (high evidence)
SCN5A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Brugada syndrome 1
  • Long QT syndrome-3
  • Brugada syndrome 1 601144
Tags
Green List (high evidence)
SLC22A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cardiomyopathy
  • Carnitine deficiency, systemic primary 212140
  • primary carnitine deficiency
  • short QT
  • arrhythmia
Tags
Green List (high evidence)
SLC4A3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • ventricular fibrillation
  • cardiac arrest
  • short QT
Tags
Green List (high evidence)
SNTA1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Long QT syndrome 12 612955
Tags
Green List (high evidence)
TNNI3K
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac conduction disease with or without dilated cardiomyopathy 616117
Tags
Green List (high evidence)
TRDN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Green List (high evidence)
TRPM4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Progressive familial heart block, type IB 604559
Tags
Amber List (moderate evidence)
CACNA2D1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Brugada/Brugada like syndrome
  • Brugada syndrome
  • Short QT syndrome 6
  • short qt
  • aborted sudden death
Tags
  • watchlist
Red List (low evidence)
ABCC9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • short qt
  • Brugada syndrome
  • ventricular tachycardia
  • atrial fibrillation
  • Dilated cardiomyopathy
Tags
Red List (low evidence)
AKAP9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Long QT syndrome-11 611820
  • Long QT syndrome-11
Tags
Red List (low evidence)
ALG10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Progressive myoclonus epilepsy
  • CDG
Tags
Red List (low evidence)
ALG10B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688
Tags
Red List (low evidence)
CALM3
0 reviews
 Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
CAV3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Brugada/Brugada like syndrome
  • Long QT syndrome-9
Tags
Red List (low evidence)
DLG1
0 reviews
 Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
KCND3
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red List (low evidence)
KCNE5
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Brugada syndrome
  • atrial fibrillation
Tags
Red List (low evidence)
KCNJ8
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Brugada/Brugada like syndrome
  • short qt
  • ventricular tachycardia
  • atrial fibrillation
Tags
Red List (low evidence)
LRP5
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • short qt
Tags
Red List (low evidence)
NOS1AP
0 reviews
 Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
PKP2
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Brugada syndrome
  • Arrhythmogenic right ventricular cardiomyopathy
  • Dilated cardiomyopathy
Tags
Red List (low evidence)
RANGRF
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red List (low evidence)
SCN2B
0 reviews
 Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
SCN4B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Long QT syndrome-10
Tags
Red List (low evidence)
SLMAP
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Brugada/Brugada like syndrome
Tags

Major version comments

  • 2019-01-28 10:44 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
    Checked against the component panels, and ready to be promoted to version 1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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