Acute rhabdomyolysis
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
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.
Panel Version: 0.6
Comment on mode of inheritance: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has been set to 'both mono and biallelic'.Created: 16 Feb 2022, 2:07 p.m. | Last Modified: 16 Feb 2022, 2:07 p.m.
Panel Version: 0.5
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Rippling muscle disease, OMIM:606072
- Myopathy, distal, Tateyama type, OMIM:614321
- OMIM
- 601253
- Clinvar variants
- Variants in CAV3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Sudden death in young people
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- Hereditary neuropathy
- Brugada syndrome and cardiac sodium channel disease
- Short QT syndrome
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Long QT syndrome
- Hereditary neuropathy or pain disorder
History Filter Activity
16 Feb 2022, Gel status: 3
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: CAV3 was added gene: CAV3 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to 12666119; 15668980; 11251997; 27312022; 16730439; 9536092 Phenotypes for gene: CAV3 were set to Rippling muscle disease, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321