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Molecular autopsy

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

2 reviews

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: 0.86

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: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Atrial fibrillation, familial, 9 (613980)
  • Short QT syndrome 3 609622
  • LONG QT SYNDROME 7 (170390)
  • Short QT syndrome 3 (609622)
  • catecholaminergic polymorphic ventricular tachycardia
  • ANDERSEN SYNDROME (170390)
  • Andersen syndrome (170390)
  • ventricular tacyarrhythmia
  • short qt
  • atrial fibrillation
OMIM
600681
Clinvar variants
Variants in KCNJ2
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

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 22311718; 15761194; 22308236; 25691870; 23440193; 12163457; 19710529; 24794859; 22155372; 19285083 to 19716085; 27761157; 16226079; 16301704

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KCNJ2 was added gene: KCNJ2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to 22311718; 15761194; 22308236; 25691870; 23440193; 12163457; 19710529; 24794859; 22155372; 19285083 Phenotypes for gene: KCNJ2 were set to catecholaminergic polymorphic ventricular tachycardia; ventricular tacyarrhythmia; Short QT syndrome 3 609622; short qt; LONG QT SYNDROME 7 (170390); ANDERSEN SYNDROME (170390); atrial fibrillation Mode of pathogenicity for gene: KCNJ2 was set to Other - please provide details in the comments