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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: CAV3

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

2 reviews

Ivone Leong (Genomics England Curator)

Previously: 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
Created: 6 Oct 2021, 1:12 p.m. | Last Modified: 6 Oct 2021, 1:12 p.m.

Panel Version: 2.29

Created: 6 Oct 2021, 1:12 p.m.
Last Modified: 6 Oct 2021, 1:12 p.m.
Panel version: 2.29

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.

Created: 27 Jul 2016, 8:21 a.m.

Panel version: 0.116

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

Rippling muscle disease 2, OMIM:606072
Myopathy, distal, Tateyama type, OMIM:614321

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

6 Oct 2021, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_MOI was removed from gene: CAV3.

15 Jul 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_MOI tag was added to gene: CAV3.

15 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CAV3 were changed from 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 to Rippling muscle disease 2, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321

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