Hypertrophic cardiomyopathy - teen and adult

Gene: CACNA1C

Red List (low evidence)

CACNA1C (calcium voltage-gated channel subunit alpha1 C)
EnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 9 panels

3 reviews

James Eden (Manchester)

I don't know

Number of different pedigrees with combined LQT and HCM phenotype with Arg518Cys/His https://www.ncbi.nlm.nih.gov/pubmed/26253506
Created: 27 Sep 2019, 1:19 p.m. | Last Modified: 27 Sep 2019, 1:19 p.m.
Panel Version: 1.74

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

Phenotypes
Brugada syndrome 3 611875; Long QT syndrome 8 618447; Timothy syndrome 601005

Publications

Rebecca Whittington (South West GLH)

Red List (low evidence)

Brugada syndrome 3 (611875); Timothy syndrome (601005)
Created: 25 Mar 2019, 4:30 p.m.
HGMD - 1 variant described with HCM Pubmed: 24183960
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Hypertrophic cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 2.
Created: 19 Feb 2016, 11:48 a.m.

Publications

  • 24183960
  • doi:10.​1007/​s12265-016-9673-5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Brugada syndrome
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
Complete
Publications
  • 24183960
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CACNA1C. Mode of inheritance for gene CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CACNA1C was created by ellenmcdonagh

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Hypertrophic Cardiomyopathypanel. Sources: Literature