1. Genes and Genomic Entities
  2. KCNJ8

KCNJ8

potassium voltage-gated channel subfamily J member 8
OMIM: 600935, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red KCNJ8 in Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.3

review Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • ?Ventricular fibrillation
Amber KCNJ8 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

review Unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • arrhythmia
  • Sudden infant death syndrome
  • ?Ventricular fibrillation
Red KCNJ8 in Short QT syndrome


Level 2: Cardiology
Version 3.16
Latest signed off version: v3.14 (30 Apr 2025)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • Expert Review Red
    • Brugada syndrome (Version 1.7)
    • Literature
    Phenotypes
    • short qt
    • ventricular tachycardia
    • atrial fibrillation
    Red KCNJ8 in Brugada syndrome and cardiac sodium channel disease


    Level 2: Cardiology
    Version 3.14
    Latest signed off version: v3.12 (30 Apr 2025)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Expert list
    Phenotypes
    • Brugada syndrome, MONDO:0015263
    Amber KCNJ8 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Cantu syndrome
    Green KCNJ8 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Cantu syndrome
    Tags
    • gene-checked