Catecholaminergic polymorphic VT

Gene: KCNJ2

Red List (low evidence)

KCNJ2 (potassium voltage-gated channel subfamily J member 2)
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 8 panels

4 reviews

Rebecca Whittington (South West GLH)

Red List (low 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.
No evidence for this gene assoc with CPVT. PMID:27761157
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

James Eden (Manchester)

Red List (low 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

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia 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 = 2.
Created: 19 Feb 2016, 11:34 a.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • North West GLH
  • UKGTN
  • Expert list
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
  • Atrial fibrillation, familial, 9 (613980)
  • Andersen syndrome (170390)
  • Short QT syndrome 3 (609622)
OMIM
600681
Clinvar variants
Variants in KCNJ2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNJ2.

14 Feb 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to KCNJ2. Mode of inheritance for gene KCNJ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 to 27761157

22 Jul 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: UKGTN

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Expert list