Sudden death in young people

Gene: KCNJ8

Amber List (moderate evidence)

KCNJ8 (potassium voltage-gated channel subfamily J member 8)
EnsemblGeneIds (GRCh38): ENSG00000121361
EnsemblGeneIds (GRCh37): ENSG00000121361
OMIM: 600935, Gene2Phenotype
KCNJ8 is in 7 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Paper suggesting mutations predispose to SIDS; only 2 cases, one variant missense, no inheritance studies. Await further evidence.
Created: 19 Dec 2016, 3:42 p.m.

Rebecca Foulger (Genomics England curator)

Note that KCNJ8 is a red gene on the Brugada panel, but is included on this 'Sudden death in young people' panel because of the 'sudden infant death syndrome' phenotypes iin Radboud.
Created: 6 Dec 2016, 2:42 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • arrhythmia
  • Sudden infant death syndrome
  • ?Ventricular fibrillation
OMIM
600935
Clinvar variants
Variants in KCNJ8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 2

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.

19 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2016, Gel status: 2

Set publications

Ellen Thomas (Genomics England Curator)

Publications for KCNJ8 were set to PMID: 21836131

29 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

KCNJ8 was added to Sudden death in young peoplepanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

KCNJ8 was added to Sudden death in young peoplepanel. Sources: Emory Genetics Laboratory

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KCNJ8 was created by rfoulger