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Short QT syndrome

Gene: KCNJ2

Green List (high evidence)
KCNJ2 (potassium voltage-gated channel subfamily J member 2)
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 10 panels

7 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 18 Nov 2019, 2:43 p.m. | Last Modified: 18 Nov 2019, 2:43 p.m.
Panel Version: 1.23
Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England).
Created: 3 Sep 2019, 8:41 a.m. | Last Modified: 3 Sep 2019, 8:41 a.m.
Panel Version: 1.14
Created: 3 Sep 2019, 8:41 a.m.
Last Modified: 3 Sep 2019, 8:41 a.m.
Panel version: 1.23

Rebecca Whittington (South West GLH)

Red List (low evidence)

Short QT syndrome 3
Created: 25 Mar 2019, 4:30 p.m.
1 report associated with LQT. 28609477
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.10

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 1.6

James Eden (Manchester)

Green List (high evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. 94 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Andersen syndrome (170390); Atrial fibrillation, familial, 9 (613980); Short QT syndrome 3 (609622)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 1.4

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Limited evidence just 1 or 2 families.
Created: 25 Jan 2019, 12:52 p.m.
Created: 25 Jan 2019, 12:52 p.m.

Panel version: 1.2

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gain of function variants associated with Short QT in OMIM and not in Gen2Phen. At least 3 variants identified inunrelated cases, together with supportive functional studies
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 15 Nov 2018, 12:10 p.m.

Panel version: 0.4

Jules Hancox (University of Bristol)

Green List (high evidence)

KCNJ2 encodes Kir2.1 protein which is a key component of cardiac inward rectifier potassium current.

KCNJ2 was 3rd gene implicated in SQTS, responsible for SQTS variant 3 (SQT3)

mutations are gain of function.
Sources: Literature
Created: 17 Oct 2018, 7:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
short qt; atrial fibrillation; ventricular tacyarrhythmia

Publications

Mode of pathogenicity
Other

Created: 17 Oct 2018, 7:23 p.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
Phenotypes
  • Short QT syndrome 3, OMIM:609622
  • Short QT syndrome type 3, MONDO:0012314
  • Atrial fibrillation, familial, 9, OMIM:613980
  • Atrial fibrillation, familial, 9, MONDO:0013513
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
OMIM
600681
Clinvar variants
Variants in KCNJ2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KCNJ2 were changed from Atrial fibrillation, familial, 9 (613980); Short QT syndrome 3 609622; Short QT syndrome 3 (609622); Andersen syndrome (170390); ventricular tacyarrhythmia; short qt; atrial fibrillation to Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222

13 Sep 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source West Midlands, Oxford and Wessex GLH was added to KCNJ2.

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KCNJ2 were set to 16226079; 16301704

3 Sep 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNJ2. Mode of inheritance for gene KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to KCNJ2.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to KCNJ2. Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2 Publications for gene KCNJ2 were changed from 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 to 16226079; 16301704

20 Nov 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: KCNJ2 encodes Kir2.1 protein w

19 Nov 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870

15 Nov 2018, Gel status: 3

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set Phenotypes, Status Update

Sarah Leigh (Genomics England Curator)

Source Emory Genetics Laboratory was added to KCNJ2. Source Long QT syndrome (Version 1.5) was added to KCNJ2. Source Expert Review Green was added to KCNJ2. Source UKGTN was added to KCNJ2. Source Radboud University Medical Center, Nijmegen was added to KCNJ2. Added phenotypes Short QT syndrome 3 609622 for gene: KCNJ2 Rating Changed from No List (delete) to Green List (high evidence)

17 Oct 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Jules Hancox (University of Bristol)

gene: KCNJ2 was added gene: KCNJ2 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 Phenotypes for gene: KCNJ2 were set to short qt; atrial fibrillation; ventricular tacyarrhythmia Mode of pathogenicity for gene: KCNJ2 was set to Other Review for gene: KCNJ2 was set to GREEN