Muscular dystrophy and myopathy_Paediatric

Gene: CAV3

Green List (high evidence)

CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 probands/families reported with congenital/paediatric onset myopathy (1 tubular aggregate myopathy and 3 rippling muscle disease). The mechanism for disease is expected to be dominant negative.
Sources: Literature
Created: 31 Jul 2024, 11:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Caveolinopathy MONDO:0016146

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM reports mean age of onset at 22 years (range 5-54).

PMID: 32004987 - 1 family (2 siblings) with elevated creatine kinase, myalgia and hypercholesterolemia. Onset was ~30 years old.

PMID: 28807458 - 1 patient with rippling muscle disease, who remains asymptomatic at 45 years old. Patient also had high LDL and CK levels and therefore hyperlipidemia.

PMID: 27312022 - 8 patients (7 families) with exercise intolerance (7/8), muscle atrophy (2/8) and rhabdomyolysis (2/8). Functional studies show a 50% reduction in protein from patient cells vs controls. Age at onset ranged from 7 years old to 30s, with 3/8 patients presenting <18 years of age.

Summary: while uncommon paediatric onset is reported.
Sources: Expert list
Created: 15 Jun 2020, 5:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Caveolinopathy MONDO:0016146
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

31 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cav3 has been classified as Green List (High Evidence).

31 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cav3 has been classified as Green List (High Evidence).

31 Jul 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: CAV3 was added gene: CAV3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAV3 were set to 38982518; 30174172 Phenotypes for gene: CAV3 were set to Caveolinopathy MONDO:0016146 Mode of pathogenicity for gene: CAV3 was set to Other Review for gene: CAV3 was set to GREEN gene: CAV3 was marked as current diagnostic