Long QT syndrome

Gene: CAV3

Red List (low evidence)

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

8 reviews

Ivone Leong (Genomics England Curator)

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

Rebecca Whittington (South West GLH)

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

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

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Caroline Wright (Genomics England Curator)

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.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

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

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.
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.

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM as well
Created: 1 Feb 2016, 8:58 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Long QT syndrome-9
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CAV3 were set to

21 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CAV3.

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CAV3.

7 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory