1. Genes and Genomic Entities
  2. KCNJ5

KCNJ5

potassium voltage-gated channel subfamily J member 5
OMIM: 600734, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber KCNJ5 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 Amber
  • Expert Review
Green KCNJ5 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.23

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Hyperaldosteronism, familial, type III 613677
Red KCNJ5 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
    • North West GLH
    • Long QT syndrome (Version 1.5)
    Phenotypes
    • Hyperaldosteronism, familial, type III (613677)
    • Long QT syndrome 13 (613485)
    Red KCNJ5 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
    • Expert Review Red
    • South West GLH
    • London South GLH
    • North West GLH
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hyperaldosteronism, familial, type III (613677)
    • Long QT syndrome 13 (613485)
    • Long QT syndrome 13
    Red KCNJ5 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
    • Hyperaldosteronism, familial, type III, 613677
    • Long QT syndrome 13, 613485
    Green KCNJ5 in Primary hyperaldosteronism - KCNJ5


    Level 2: Endocrinology
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hyperaldosteronism, familial, type III, OMIM:613677
    • familial hyperaldosteronism type III, MONDO:0013359