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  3. CACNA1C
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Genetic Epilepsy

Gene: CACNA1C

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Sources: Literature
Created: 7 Oct 2021, 1:18 a.m.

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

Publications

Created: 7 Oct 2021, 1:18 a.m.

Panel version: 0.1663

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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
Panels with this gene

History Filter Activity

15 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNA1C were changed from Neurodevelopmental abnormalities and epilepsy, no OMIM# to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029

7 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1c has been classified as Green List (High Evidence).

7 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1c has been classified as Green List (High Evidence).

7 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1C was added gene: CACNA1C was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to 34163037 Phenotypes for gene: CACNA1C were set to Neurodevelopmental abnormalities and epilepsy, no OMIM# Review for gene: CACNA1C was set to GREEN