Hypertrophic cardiomyopathy

Gene: CACNA1C

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

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

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

• 26253506

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

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