1. Genes and Genomic Entities
  2. CACNA2D2

CACNA2D2

calcium voltage-gated channel auxiliary subunit alpha2delta 2
OMIM: 607082, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CACNA2D2 in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.344

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • epilepsy
  • ataxia
  • developmental delay
  • cerebellar atrophy
Green CACNA2D2 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.147
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Absence epilepsy
    • Cerebellar atrophy with seizures and variable developmental delay, 618501
    Amber CACNA2D2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

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