1. Genes and Genomic Entities
  2. KCNJ2

KCNJ2

potassium voltage-gated channel subfamily J member 2
OMIM: 600681, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green KCNJ2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
  • Episodic weakness
  • Periodic paralysis
Green KCNJ2 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
  • Episodic weakness
  • Periodic paralysis
Green KCNJ2 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • West Midlands, Oxford and Wessex GLH
    • South West GLH
    • London South GLH
    • North West GLH
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • Long QT syndrome (Version 1.5)
    • Emory Genetics Laboratory
    • Literature
    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
    Green KCNJ2 in Long QT syndrome


    Level 2: Cardiology
    Version 3.12
    Latest signed off version: v3.10 (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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • 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
    Red KCNJ2 in Catecholaminergic polymorphic VT


    Level 2: Cardiology
    Version 5.3
    Latest signed off version: v5.1 (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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • North West GLH
    • UKGTN
    • Expert list
    Phenotypes
    • catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
    Red KCNJ2 in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Andersen syndrome, OMIM:170390
    • Andersen-Tawil syndrome, MONDO:0008222
    • Episodic weakness
    • Periodic paralysis
    Green KCNJ2 in Skeletal muscle channelopathy


    Level 2: Neurology
    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Andersen syndrome, OMIM:170390
    • Andersen-Tawil syndrome, MONDO:0008222
    • Episodic weakness
    • Periodic paralysis
    Green KCNJ2 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, imprinted status unknown
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Andersen syndrome, OMIM:170390
    • Andersen-Tawil syndrome, MONDO:0008222
    Green KCNJ2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Andersen syndrome, OMIM:170390
    • Andersen-Tawil syndrome, MONDO:0008222
    Red KCNJ2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Short QT syndrome 3, OMIM:609622