1. Genes and Genomic Entities
  2. CACNB2

CACNB2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber CACNB2 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, 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 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.8
    Latest signed off version: v3.2 (22 Mar 2023)

    Component of the following Super Panels:

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

    		•  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 Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Red CACNB2 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.39
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert