Hypertrophic cardiomyopathy
Gene: CAV3EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 panels
4 reviews
Rebecca Whittington (South West GLH)
Cardiomyopathy, familial hypertrophic (192600 )Created: 25 Mar 2019, 4:30 p.m.
OMIM association with LQT9. Limited evidence for disease association. HGMD reports in association with several disorders including 2 DM variants in HCM (26656175,14672715) . Main association rippling muscle disease and LGMD. A few associated with LQT.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
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.
Caroline Wright (Genomics England Curator)
Comment on list classification: Not on Manchester HCM diagnostic panelCreated: 11 Feb 2016, 3:04 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy, familial hypertrophic,
- OMIM
- 601253
- Clinvar variants
- Variants in CAV3
- Penetrance
- Complete
- Panels with this gene
-
- Sudden death in young people
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Short QT syndrome
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Long QT syndrome
- Brugada syndrome and cardiac sodium channel disease
History Filter Activity
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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to CAV3.
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CAV3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
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
Added New Source
Ellen McDonagh (Genomics England Curator)CAV3 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
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
Added New Source
Ellen McDonagh (Genomics England Curator)CAV3 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)CAV3 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services