This Panel is marked as Internal
Cardiac arrhythmias - previous panel
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Brugada/Brugada like syndrome
- Long QT syndrome-9
- OMIM
- 601253
- Clinvar variants
- Variants in CAV3
- Penetrance
- None
- Panels with this gene
-
- Hypertrophic cardiomyopathy
- Acute rhabdomyolysis
- Long QT syndrome
- Short QT syndrome
- Hereditary neuropathy
- Rhabdomyolysis and metabolic muscle disorders
- Congenital myopathy
- Brugada syndrome and cardiac sodium channel disease
- Arthrogryposis
- Sudden death in young people
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary neuropathy or pain disorder
History Filter Activity
28 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Eleanor Williams: Sources: Literature
17 Dec 2018, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Long QT syndrome-9 for gene: CAV3
17 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: CAV3 was added gene: CAV3 was added to Cardiac arrythmias. Sources: Expert Review Red Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAV3 were set to Brugada/Brugada like syndrome