KCNH2

potassium voltage-gated channel subfamily H member 2
OMIM: 152427, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
No list KCNH2 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Green KCNH2 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
    • Long QT syndrome (Version 1.5)
    • Brugada syndrome (Version 1.7)
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • Brugada
    • Short QT syndrome 1 (609620)
    • ventricular fibrillation
    • cardiac arrest
    • Short QT syndrome 1 609620
    • Long QT syndrome-2 (613688)
    • short qt
    • atrial fibrillation
    Green KCNH2 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 Green
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Short QT syndrome 1 (609620)
    • Long QT syndrome-2
    • Long QT syndrome-2 (613688)
    Amber KCNH2 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • South West GLH
    • Expert list
    Phenotypes
    • Brugada syndrome, MONDO:0015263
    Tags
    • missense
    Amber KCNH2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • Short QT syndrome 1, OMIM:609620
    • Long QT syndrome 2, OMIM:613688