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Severe Paediatric Disorders

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

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

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

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
Panels with this gene