CACNA1D

calcium voltage-gated channel subunit alpha1 D
OMIM: 114206
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD, Sinoatrial node dysfunction and deafness 614896 AR
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD, Sinoatrial node dysfunction and deafness 614896 AR