Genomics England
GMS Panels
Panels
Genes and Entities

CACNA1D

calcium voltage-gated channel subunit alpha1 D
OMIM: 114206
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD, Sinoatrial node dysfunction and deafness 614896 AR
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD, Sinoatrial node dysfunction and deafness 614896 AR