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  3. CACNA1C
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Paediatric or syndromic cardiomyopathy

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: MOI has been corrected.
Created: 2 Jan 2020, 4:17 p.m. | Last Modified: 2 Jan 2020, 4:17 p.m.
Panel Version: 1.1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 3 Dec 2019, 1:59 p.m. | Last Modified: 3 Dec 2019, 1:59 p.m.
Panel Version: 0.53
Created: 3 Dec 2019, 1:59 p.m.
Last Modified: 3 Dec 2019, 1:59 p.m.
Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • CACNA1C-related disorder
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
None
Panels with this gene

History Filter Activity

19 Jun 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CACNA1C were changed from CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder

19 Jun 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CACNA1C were changed from to CACNA1C-related disorder

2 Jan 2020, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CACNA1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CACNA1C was added gene: CACNA1C was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CACNA1C was set to