Congenital myopathy
Gene: CAV3EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Phenotypes listed are not consistent with congenital myopathy. The main muscular phenotype is limb-girdle muscular dystrophy (associated with dystrophic muscle changes: an exclusion criteria for this phenotype) and not of infantile onset.Created: 3 Feb 2017, 11:41 a.m.
Phenotypes listed are not consistent with congenital myopathy. The main muscular phenotype is limb-girdle muscular dystrophy (associated with dystrophic muscle changes: an exclusion criteria for this phenotype) and not of infantile onset.Created: 30 Jan 2017, 2:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, distal, Tateyama type, OMIM:614321
- OMIM
- 601253
- Clinvar variants
- Variants in CAV3
- Penetrance
- Complete
- Panels with this gene
-
- Short QT syndrome
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Brugada syndrome and cardiac sodium channel disease
- Long QT syndrome
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Sudden death in young people
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072 to Myopathy, distal, Tateyama type, OMIM:614321
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for CAV3 were set to Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
GEL ()CAV3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen