Research panel - Severe Paediatric Disorders
Gene: KCNJ2

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

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'MONOALLELIC' as could not find any evidence of biallelic variants linked to disease.
Created: 24 Dec 2020, 2:49 p.m. | Last Modified: 24 Dec 2020, 2:49 p.m.

Panel Version: 1.31

Created: 24 Dec 2020, 2:49 p.m.
Last Modified: 24 Dec 2020, 2:49 p.m.
Panel version: 1.31

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KCNJ2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Andersen syndrome, 170390 (3) | Atrial fibrillation, familial, 9, 613980 (3) | Short QT syndrome 3, 609622 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | ND
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
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

None

Publications

30847515

Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KCNJ2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 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

21 Feb 2020, Gel status: 3