Hypertrophic cardiomyopathy - teen and adult

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 9 panels

5 reviews

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 1.93

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81

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
  • Expert Review Green
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Brugada syndrome 3 611875
  • Long QT syndrome 8 618447
  • Timothy syndrome 601005
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

2 Dec 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CACNA1C were changed from Hypertrophic cardiomyopathy; Long QT syndrome; Brugada syndrome to Hypertrophic cardiomyopathy; Brugada syndrome 3 611875; Long QT syndrome 8 618447; Timothy syndrome 601005

2 Dec 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CACNA1C were set to 24183960; doi:10.​1007/​s12265-016-9673-5

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

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

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Hypertrophic Cardiomyopathypanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CACNA1C was created by ellenmcdonagh