PanelApp (staging)
  1. Genes and Genomic Entities
  2. CACNA2D2

CACNA2D2

calcium voltage-gated channel auxiliary subunit alpha2delta 2
OMIM: 607082, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CACNA2D2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar atrophy with seizures and variable developmental delay MIM#618501

Green CACNA2D2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Cerebellar atrophy with seizures and variable developmental delay MIM#618501

    Green CACNA2D2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar atrophy with seizures and variable developmental delay, MIM#618501

    Green CACNA2D2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.30

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebellar atrophy with seizures and variable developmental delay MIM#618501