Long QT syndrome

Gene: CAV3

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.

Created: 18 Nov 2019, 2:09 p.m. | Last Modified: 18 Nov 2019, 2:09 p.m.

Panel Version: 1.44

Red List (low evidence)

Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).

Created: 25 Mar 2019, 4:30 p.m.

Not a definitive link for this gene and LQT. May need Clinical input to rule out. PMID:26132555. PMID:17275750. PMID: 24021552. PMID: 17060380.

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Currently on CGGL Royal Brompton diagnostic panel, only VUS reported to date Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear.

Created: 19 Mar 2019, 4:40 p.m. | Last Modified: 18 Sep 2019, 9:17 p.m.

Panel Version: 1.38

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

Publications

• 17060380

Green List (high evidence)

Comment when marking as ready: Not on Manchester diagnostic panel. Red on all GEL panels on 7th march 2016

Created: 7 Mar 2016, 4:16 p.m.

Red List (low evidence)

Functional link between this gene and Long QT syndrome is not very clear. Many of the variants detected in LQT patients are also detected at a high frequency on ExAC.

Created: 2 Mar 2016, 4:13 p.m.

Variants in this GENE are reported as part of current diagnostic practice

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.

Created: 20 Feb 2019, 2:17 p.m.

On the Inherited Cardiac Condition Genes panel for Long QT syndrome 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 = 6.

Created: 19 Feb 2016, 11:03 a.m.

Comment on list classification: Good evidence from OMIM as well

Created: 1 Feb 2016, 8:58 p.m.