Short QT syndrome
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
1 review
Sarah Leigh (Genomics England Curator)
Not associated with Short QT phenotype in OMIM or in Gen2Phen. Long QT syndrome (Version 1.5);Brugada syndrome (Version 1.7) and Emory Genetics Laboratory's Long and Short QT SyndromesSequencing Panel.Created: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Brugada syndrome (Version 1.7)
- Long QT syndrome (Version 1.5)
- Emory Genetics Laboratory
- OMIM
- 601253
- Clinvar variants
- Variants in CAV3
- Penetrance
- None
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Short QT syndrome
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Brugada syndrome and cardiac sodium channel disease
- Long QT syndrome
- Hereditary neuropathy
- Arthrogryposis
- Acute rhabdomyolysis
- Sudden death in young people
History Filter Activity
20 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Not associated with Short QT p
15 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: CAV3 was added gene: CAV3 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7) Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted