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Long 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

8 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, 2:09 p.m. | Last Modified: 18 Nov 2019, 2:09 p.m.
Panel Version: 1.44
Created: 18 Nov 2019, 2:09 p.m.
Last Modified: 18 Nov 2019, 2:09 p.m.
Panel version: 1.44

Rebecca Whittington (South West GLH)

Green List (high evidence)

Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Created: 25 Mar 2019, 4:30 p.m.
Lots of literature evidence for this gene. PMID: 16217063. PMID: 23440193. PMID: 17221872. PMID: 24861851.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

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

Panel version: 1.26

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Several pathogenic variants reported from our lab. High literature evidence
Created: 19 Mar 2019, 3:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 19 Mar 2019, 3:20 p.m.

Panel version: 1.23

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 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: 1.13

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.
On the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 65.
Created: 19 Feb 2016, 10:42 a.m.

Publications

  • 11371347
  • doi:10.​1007/​s12265-016-9673-5

Created: 19 Feb 2016, 10:42 a.m.

Panel version: 1.15

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Sufficient evidence from experts and OMIM to promote from Amber to Green
Created: 29 Jan 2016, 1:32 p.m.
Comment on mode of inheritance: Evidence from OMIM for Anderson syndrome
Created: 29 Jan 2016, 1:29 p.m.
Comment on list classification: Both expert reviewers and OMIM show association with Anderson syndrome/Long-QT 7
Created: 29 Jan 2016, 1:27 p.m.
Created: 29 Jan 2016, 1:27 p.m.

Panel version: 0.7

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Associated with Andersen syndrome
Created: 6 Jan 2016, 5:29 p.m.

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

Created: 6 Jan 2016, 5:29 p.m.

Panel version: 0.0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

multiple mutations causative for LQT
Created: 2 Dec 2015, 5:19 p.m.

Publications

Created: 2 Dec 2015, 5:19 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
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
Complete
Publications
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 Andersen syndrome (170390); Atrial fibrillation, familial, 9 (613980); ANDERSEN SYNDROME (170390); LONG QT SYNDROME 7 (170390); Short QT syndrome 3 (609622) 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

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KCNJ2 were set to 19716085

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNJ2.

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: 3

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

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 12163457 to 19716085 Rating Changed from Green List (high evidence) to Green List (high evidence)

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set Phenotypes

Damian Smedley (Genomics England Curator)

Phenotypes for KCNJ2 were set to ANDERSEN SYNDROME (170390); LONG QT SYNDROME 7 (170390);

29 Jan 2016, Gel status: 4

Set publications

Damian Smedley (Genomics England Curator)

Publications for KCNJ2 were set to 12163457

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for KCNJ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ2 was added to Long QT syndromepanel. Sources: UKGTN

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ2 was added to Long QT syndromepanel. Sources: Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ2 was added to Long QT syndromepanel. Sources: Expert list,Emory Genetics Laboratory