Arthrogryposis
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
0 reviews
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Muscular dystrophy, limb-girdle, type IC, 607801Rippling muscle disease, 606072Creatine phosphokinase, elevated serum, 123320Myopathy, distal, Tateyama type, 614321Cardiomyopathy, familial hypertrophic, 192600
- 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
- 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 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
21 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CAV3 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CAV3 was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CAV3 was added to Arthrogryposispanel. Sources: Expert list