Limb girdle muscular dystrophy

Gene: CAV3

Green List (high evidence)

CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:21 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type IC, 607801
  • Rippling muscle disease, 606072
  • Creatine phosphokinase, elevated serum, 123320
  • Myopathy, distal, Tateyama type, 614321
  • Cardiomyopathy, familial hypertrophic, 192600
  • Limb-girdle muscular dystrophy
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1408/
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for CAV3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

27 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory