Brugada syndrome and cardiac sodium channel disease
Gene: CAV3
CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 panels
3 reviews
Rebecca Whittington (South West GLH)
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.
NO evidence for Brugada Syndrome. More assoc with LQT but even that is weak. PMID: 26132555. https://www.ncbi.nlm.nih.gov/pubmed/17060380?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24021552Created: 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
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Not on Manchester diagnostic panelCreated: 11 Feb 2016, 12:20 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- Brugada syndrome, MONDO:0015263
- OMIM
- 601253
- Clinvar variants
- Variants in CAV3
- Penetrance
- Complete
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Sudden death in young people
- Acute rhabdomyolysis
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Short QT syndrome
- Rhabdomyolysis and metabolic muscle disorders
- Congenital myopathy
- Arthrogryposis
- Hypertrophic cardiomyopathy
- Brugada syndrome and cardiac sodium channel disease
- Long QT syndrome
History Filter Activity
2 Mar 2021, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CAV3 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to CAV3. Mode of inheritance for gene CAV3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Feb 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).
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CAV3 was added to Brugada syndromepanel. Sources: Expert list