CACNA1D

calcium voltage-gated channel subunit alpha1 D
OMIM: 114206
PanelMode of inheritanceDetails
3 panels
R-numbers: R144
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD, Sinoatrial node dysfunction and deafness 614896 AR