Sudden cardiac death - previous panel
Gene: CAV3

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

1 review

Ellen McDonagh (Genomics England Curator)

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.

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

Panel version: Imported from Molecular autopsy panel version 0.86

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London South GLH
Expert Review Red
London South GLH
Expert Review Red

Phenotypes

Cardiomyopathy, familial hypertrophic,
Brugada/Brugada like syndrome
Long QT syndrome-9

OMIM

601253

Clinvar variants

Variants in CAV3

Penetrance

None

Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CAV3 was added gene: CAV3 was added to Sudden cardiac death. Sources: Expert Review Red,London South GLH Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAV3 were set to Cardiomyopathy, familial hypertrophic,; Brugada/Brugada like syndrome; Long QT syndrome-9

Sudden cardiac death - previous panel Gene: CAV3