Genetic Epilepsy
Gene: CACNA1D

CACNA1D (calcium voltage-gated channel subunit alpha1 D)
EnsemblGeneIds (GRCh38): ENSG00000157388
EnsemblGeneIds (GRCh37): ENSG00000157388
OMIM: 114206, Gene2Phenotype
CACNA1D is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants: At least 3 unrelated families reported.

Bi-allelic variants: Original two families reported segregated the same homozygous variant, ?founder. Mouse model. Moderate evidence for disease association.
Created: 30 May 2021, 9:11 a.m. | Last Modified: 30 May 2021, 9:11 a.m.

Panel Version: 0.7716

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200; Sinoatrial node dysfunction and deafness, MIM# 614896

Publications

Created: 30 May 2021, 9:11 a.m.
Last Modified: 30 May 2021, 9:11 a.m.
Panel version: Imported from Mendeliome panel version 0.7716

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Three de novo missense CACNA1D mutations identified in unrelated individuals with autism spectrum disorders and epilepsy
Created: 26 Apr 2021, 12:43 a.m. | Last Modified: 26 Apr 2021, 12:43 a.m.

Panel Version: 0.1062

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474

Publications

Mode of pathogenicity
Other

Created: 26 Apr 2021, 12:43 a.m.
Last Modified: 26 Apr 2021, 12:43 a.m.
Panel version: 0.1062

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474

OMIM

114206

Clinvar variants

Variants in CACNA1D

Penetrance

None

Publications

Panels with this gene