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 1.27

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 1.59

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


Version 2.7
Latest signed off version: v2.4 (20 Aug 2020)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.20 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 2.18
    Latest signed off version: v2.5 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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


    Version 1.12
    Latest signed off version: v1.2 (27 Feb 2020)

    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


    Version 1.21
    Latest signed off version: v1.2 (2 Mar 2020)

    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


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.28
    Latest signed off version: v2.2 (4 Mar 2020)

    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

    Green KCNJ2 in Severe Paediatric Disorders


    Version 1.77

    review 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