Description
This panel is used for clinical indication 'R130 Short QT syndrome' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R130 Short QT syndrome'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

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

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel has been created with a Short QT gene list provided by Jules Hancox (University of Bristol) and with genes from the Long QT syndrome (Version 1.5) PanelApp panel and from the Brugada syndrome (Version 1.7) PanelApp panel.  The ratings for all of the genes from the originating PanelApp panels were changed to red, so that they could be reviewed with respect to Short QT.  The source of these genes was given as the panels from which the genes originated (ie: Long QT syndrome (Version 1.5) and from the Brugada syndrome (Version 1.7). Publications were removed as these related to Long QT and Brugada sydromes.

6 reviewers

  • Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jules Hancox (University of Bristol)

    Group: GeCIP domain
    Workplace: Research lab

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

40 Entities

32 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
40 Entitiess
Green Green List (high evidence)
CACNA1C
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Brugada syndrome (Version 1.7)
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Long QT syndrome (Version 1.5)
  • North West GLH
  • UKGTN
Phenotypes
  • Brugada syndrome 3 611875
  • syncope
  • brugada syndrome
  • scd
  • Brugada syndrome 3 (611875)
  • short qt
  • Timothy syndrome (601005)
Tags
Green Green List (high evidence)
KCNH2
4 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Long QT syndrome (Version 1.5)
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada
  • Short QT syndrome 1 (609620)
  • ventricular fibrillation
  • cardiac arrest
  • Short QT syndrome 1 609620
  • Long QT syndrome-2 (613688)
  • short qt
  • atrial fibrillation
Tags
Green Green List (high evidence)
KCNJ2
4 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Long QT syndrome (Version 1.5)
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Atrial fibrillation, familial, 9 (613980)
  • Short QT syndrome 3 609622
  • Short QT syndrome 3 (609622)
  • Andersen syndrome (170390)
  • ventricular tacyarrhythmia
  • short qt
  • atrial fibrillation
Tags
Green Green List (high evidence)
KCNQ1
6 reviews
4 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Long QT syndrome (Version 1.5)
  • North West GLH
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short QT syndrome 2 609621
  • Long QT syndrome-1 (192500)
  • Atrial fibrillation, familial, 3 (607554)
  • Short QT syndrome 2 (609621)
  • Idiopathic Ventricular Fibrillation
  • Short QT-interval syndrome
  • Jervell and Lange-Nielsen syndrome (220400)
Tags
Green Green List (high evidence)
SLC22A5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • arrhythmia
  • short QT
  • cardiomyopathy
  • primary carnitine deficiency
  • Carnitine deficiency, systemic primary 212140
Tags
Green Green List (high evidence)
SLC4A3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • short QT
  • ventricular fibrillation
  • cardiac arrest
Tags
Amber Amber List (moderate evidence)
CACNA2D1
3 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Expert Review Amber
  • Literature
  • North West GLH
  • UKGTN
Phenotypes
  • short qt
  • Brugada syndrome
  • aborted sudden death
  • Short QT syndrome 6
Tags
  • watchlist
Amber Amber List (moderate evidence)
CACNB2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Expert Review Amber
  • Literature
  • North West GLH
  • UKGTN
Phenotypes
  • Brugada syndrome 4 (611876)
  • Short QT syndrome 5
  • brugada syndrome
  • Brugada syndrome 4 611876
  • short qt
Tags
  • watchlist
Amber Amber List (moderate evidence)
SCN5A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Literature
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Ventricular fibrillation, familial, 1 (603829)
  • Brugada syndrome 1 (601144)
  • {Sudden infant death syndrome, susceptibility to} (272120)
  • Brugada syndrome 1 601144
  • Heart block, progressive, type IA (113900)
  • Heart block, nonprogressive (113900)
  • Sick sinus syndrome 1 (608567)
  • Long QT syndrome-3 (603830)
  • Cardiomyopathy, dilated, 1E (601154)
  • Atrial fibrillation, familial, 10 (614022)
Tags
  • watchlist
Red Red List (low evidence)
ABCC9
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Expert Review Red
  • Literature
  • North West GLH
Phenotypes
  • ventricular tachycardia
  • Atrial fibrillation, familial, 12 (614050)
  • Cardiomyopathy, dilated, 1O (608569)
  • short qt
  • atrial fibrillation
Tags
Red Red List (low evidence)
AKAP9
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Long QT syndrome-11 (611820)
  • ?Long QT syndrome-11 611820
Tags
Red Red List (low evidence)
ALG10
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Long QT syndrome (Version 1.5)
Phenotypes
  • {Long QT syndrome, acquired, reduced susceptibility to} 613688
Tags
Red Red List (low evidence)
ANK2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Brugada syndrome (Version 1.7)
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Long QT syndrome 4 (600919)
  • Long QT syndrome 4 600919
  • Cardiac arrhythmia, ankyrin-B-related (600919)
  • Cardiac arrhythmia, ankyrin-B-related 600919
Tags
Red Red List (low evidence)
CALM1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Long QT syndrome 14 (616247)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
Tags
Red Red List (low evidence)
CALM2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
CALM3
1 review
1 red
Not set
Sources
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
CAV3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Brugada syndrome (Version 1.7)
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
DLG1
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
GPD1L
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • North West GLH
Phenotypes
  • Brugada syndrome 2 (611777)
Tags
Red Red List (low evidence)
HCN4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • North West GLH
Phenotypes
  • Sick sinus syndrome 2 (163800)
  • Brugada syndrome 8 (613123)
Tags
Red Red List (low evidence)
KCND3
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
KCNE1
2 reviews
1 green 1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Long QT syndrome-5 (613695)
  • Jervell and Lange-Nielsen syndrome 2 (612347)
Tags
Red Red List (low evidence)
KCNE2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Long QT syndrome-6 (613693)
  • Atrial fibrillation, familial, 4 (611493)
Tags
Red Red List (low evidence)
KCNE3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • ?Brugada syndrome 6 (613119)
Tags
Red Red List (low evidence)
KCNE5
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Phenotypes
  • atrial fibrillation
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNJ5
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Hyperaldosteronism, familial, type III (613677)
  • Long QT syndrome 13 (613485)
Tags
Red Red List (low evidence)
KCNJ8
2 reviews
2 red
Unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Expert Review Red
  • Literature
Phenotypes
  • short qt
  • ventricular tachycardia
  • atrial fibrillation
Tags
Red Red List (low evidence)
LRP5
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • short qt
Tags
Red Red List (low evidence)
NOS1AP
1 review
1 red
Not set
Sources
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
PKP2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
Tags
Red Red List (low evidence)
RANGRF
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
RYR2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Tags
Red Red List (low evidence)
SCN10A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • Expert Review Red
  • Literature
  • North West GLH
Phenotypes
  • J wave syndrome
  • short QT
  • Episodic pain syndrome, familial, 2 (615551)
  • sudden death
Tags
Red Red List (low evidence)
SCN1B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • North West GLH
Phenotypes
  • Cardiac conduction defect, nonspecific (612838)
  • Atrial fibrillation, familial, 13 (615377)
  • Brugada syndrome 5 (612838)
  • Epileptic encephalopathy, early infantile, 52 (617350)
  • Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
Tags
Red Red List (low evidence)
SCN2B
0 reviews
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
SCN3B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • North West GLH
Tags
Red Red List (low evidence)
SCN4B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
  • North West GLH
Tags
Red Red List (low evidence)
SLMAP
0 reviews
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
SNTA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
  • North West GLH
Phenotypes
  • Long QT syndrome 12 (612955)
Tags
Red Red List (low evidence)
TRPM4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Brugada syndrome (Version 1.7)
  • North West GLH
Phenotypes
  • Progressive familial heart block, type IB (604559)
Tags

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