Intellectual disability syndromic and non-syndromic
Gene: CACNA1C

CACNA1C (calcium voltage-gated channel subunit alpha1 C)
EnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029

Created: 15 Sep 2022, 9:39 p.m.
Last Modified: 15 Sep 2022, 9:39 p.m.
Panel version: 0.4935

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome. Functional studies of a subgroup of missense variants demonstrated loss of function, neutral effect, and gain of function on channel function in vitro.
Created: 7 Oct 2021, 12:25 a.m. | Last Modified: 7 Oct 2021, 12:25 a.m.

Panel Version: 0.4187

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental abnormalities and epilepsy, no OMIM#

Publications

PMID: 34163037

Created: 7 Oct 2021, 12:25 a.m.
Last Modified: 7 Oct 2021, 12:25 a.m.
Panel version: 0.4187

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029

OMIM

114205

Clinvar variants

Variants in CACNA1C

Penetrance

None

Publications

34163037

Panels with this gene