Congenital muscular dystrophy and 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
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Phenotypes
-
- Myopathy, distal, Tateyama type, OMIM:614321
- OMIM
- 601253
- Clinvar variants
- Variants in CAV3
- Penetrance
- Complete
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: CAV3 was added gene: CAV3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type, OMIM:614321 Penetrance for gene: CAV3 were set to Complete