Rhabdomyolysis and metabolic muscle disorders

Gene: CAV3

Green List (high evidence)

CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 13 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previously:
Muscular dystrophy, limb-girdle, type IC 607801;Myopathy, distal, Tateyama type 614321;Rippling muscle disease 606072
Created: 15 Jul 2021, 10:41 a.m. | Last Modified: 15 Jul 2021, 10:41 a.m.
Panel Version: 1.48

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 13 variants reported
Created: 4 Jan 2017, 12:20 p.m.
Comment on phenotypes: Also associated with Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818;
Created: 4 Jan 2017, 12:13 p.m.
Comment on mode of inheritance: Both monoallelic and biallelic for Muscular dystrophy, limb-girdle, type IC 607801, monoallelic for Myopathy, distal, Tateyama type 614321 and Rippling muscle disease 606072
Created: 4 Jan 2017, 12:13 p.m.

Ros Quinlivan (UCLH)

Green List (high evidence)

Phenotypes
muscle cramps and rhabdomyolysis phenotype

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Myopathy, distal, Tateyama type, OMIM:614321
  • Rippling muscle disease, OMIM:606072
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CAV3 were changed from Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072 to Myopathy, distal, Tateyama type, OMIM:614321; Rippling muscle disease, OMIM:606072

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CAV3 were set to Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072

4 Jan 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CAV3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Jan 2017, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CAV3 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CAV3 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CAV3 was created by sleigh