CACNB2

calcium voltage-gated channel auxiliary subunit beta 2
OMIM: 600003, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber CACNB2 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, imprinted status unknown
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Amber
    • UKGTN
    • Brugada syndrome (Version 1.7)
    • Literature
    Phenotypes
    • Brugada syndrome 4 (611876)
    • Short QT syndrome 5
    • brugada syndrome
    • Brugada syndrome 4 611876
    • short qt
    Tags
    • watchlist
    Red CACNB2 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 Unknown
    Sources
    • Expert Review Red
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Brugada syndrome 4 (611876)
    Red CACNB2 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert