Sudden death in young people
Gene: CAV3

CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Changed rating from red to grey: Although PMID:17275750 report CAV3 as a novel LQTS-associated gene with mutations producing a gain-of-function, PMID:17275750 report 3 missense mutations in 3 of 50 black infants; no mutations were detected in 1 Hispanic or 83 white infants. Also, CAV3 is a red gene on the V1.8 Hypertrophic Cardiomyopathy panel, the 1.2 Brugada syndrome panel, and the V1.0 Long QT syndrome panel. The link between CAV3 and long QT is not certain.
Created: 6 Dec 2016, 4:32 p.m.

Created: 6 Dec 2016, 4:32 p.m.

Panel version: 0.16

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Removed
Literature
Emory Genetics Laboratory
Other

Phenotypes

Cardiomyopathy, familial hypertrophic, 192600
Sudden death
sudden death in young subjects
Sudden Infant Death Syndrome
SIDS
Sudden Cardiac Arrest
Sudden Infant Death Syndrome

Tags

curated_removed

OMIM

601253

Clinvar variants

Variants in CAV3

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: CAV3.

19 Dec 2016, Gel status: 0

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.

6 Dec 2016, Gel status: 0