Genomics England
GMS Panels
Panels
Genes and Entities

CACNA2D2

calcium voltage-gated channel auxiliary subunit alpha2delta 2
OMIM: 607082
PanelMode of inheritanceDetails
1 panel
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Absence epilepsy, Cerebellar atrophy with seizures and variable developmental delay, 618501