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 1.46

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 1.21

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  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


    Version 3.10
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event

    		•  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 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.7
    Latest signed off version: v3.1 (22 Mar 2023)

    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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS