CACNA2D1

calcium voltage-gated channel auxiliary subunit alpha2delta 1
OMIM: 114204, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red CACNA2D1 in Brugada syndrome


Level 2: Cardiovascular disorders
Version 0.34

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Tags
    • disputed

    Green CACNA2D1 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 110, MIM# 620149

    Red CACNA2D1 in Short QT syndrome


    Level 2: Cardiovascular disorders
    Version 1.7

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Short QT syndrome
    Tags
    • disputed

    Green CACNA2D1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 110, MIM# 620149

    Green CACNA2D1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 110, MIM# 620149

    Red CACNA2D1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Brugada syndrome

    Red CACNA2D1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Brugada syndrome