Epileptic encephalopathyGene: CACNA1D
Gain of function variants associated with Primary aldosteronism, seizures, and neurologic abnormalities 615474 in OMIM and as a probable G2P gene. At least 3 de novo variants reported in 3 unrelated cases. Global developmental delay and intellectual disability is associated with this phenotype.
19 Dec 2017, 1:45 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD; Sinoatrial node dysfunction and deafness 614896 AR
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
CACNA1D was added to Epileptic encephalopathy panel. Sources: Literature
CACNA1D was created by Sarah Leigh