Hypertrophic cardiomyopathy - teen and adultGene: CACNA1C
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
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
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
Brugada syndrome 3 611875; Long QT syndrome 8 618447; Timothy syndrome 601005
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
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.
Source Expert Review Green was added to CACNA1C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Publications for gene: CACNA1C were set to 24183960; doi:10.1007/s12265-016-9673-5
Gene: cacna1c has been classified as Amber List (Moderate Evidence).
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
CACNA1C was added to Hypertrophic Cardiomyopathypanel. Sources: Literature
CACNA1C was created by ellenmcdonagh