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  2. Early onset or syndromic epilepsy
  3. CACNA1C
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Early onset or syndromic 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 10 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Created: 1 Feb 2023, 9:39 a.m.
Last Modified: 1 Feb 2023, 9:39 a.m.
Panel version: 3.29

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Adding back the phenotype of 'CACNA1C-related disorder' as this was specifically asked to be added by NHSE.
Created: 15 Feb 2023, 3:25 p.m. | Last Modified: 15 Feb 2023, 3:25 p.m.
Panel Version: 3.46
Comment on list classification: Promoting this gene from red to amber, but there are sufficient cases to promote to green. This gene has been proposed for inclusion on this panel through the NHS Test directory application route and therefore is not tagged for GMS review but will be promoted in the next cycle of updates.
Created: 24 May 2022, 10:58 a.m. | Last Modified: 24 May 2022, 12:16 p.m.
Panel Version: 2.529
Associated with Timothy syndrome OMIM:601005 (AD). Timothy syndrome a rare form of long QT syndrome, and is characterized by marked QT prolongation, syndactyly, immune deficiency, seizures, congenital heart defects, cognitive abnormalities, learning difficulties, and intermittent hypoglycaemia (Walsh et al 2018).

Seizures are reported in more than 3 patients. E.g.

PMID: 15454078 - Splawskiet al 2004 - report 17 children with Timothy syndrome (2 were siblings). All had the same G406R variant in exon 8A. Seizures are reported to be present in 21% (at least 3 patients).

PMID: 15863612 - Splawskiet al 2005 - report 2 unrelated children with atypical Timothy syndrome (TS2) both with no syndactyly and G406R or G402S variants in exon 8. 1 child had seizures.

PMID: 28371864 - Walsh et al 2018 - report 6 patients with Timothy syndrome from the UK, 2 were monozygous twins. 2 are reported to have seizures, both have confirmed CACNA1C variants.
Created: 24 May 2022, 10:55 a.m. | Last Modified: 24 May 2022, 10:55 a.m.
Panel Version: 2.526

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

Phenotypes
Timothy syndrome OMIM:601005

Publications

Created: 24 May 2022, 10:55 a.m.
Last Modified: 24 May 2022, 12:16 p.m.
Panel version: 2.526

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Timothy syndrome OMIM:601005
  • CACNA1C-related disorder
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2023, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CACNA1C were changed from Timothy syndrome OMIM:601005 to Timothy syndrome OMIM:601005; CACNA1C-related disorder

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CACNA1C. Source NHS GMS was added to CACNA1C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

24 May 2022, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cacna1c has been classified as Amber List (Moderate Evidence).

24 May 2022, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CACNA1C were changed from to Timothy syndrome OMIM:601005

24 May 2022, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CACNA1C were set to

24 May 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CACNA1C was added gene: CACNA1C was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown