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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: CAV3

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

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established for myopathy with/without elevated creatine

Red for HCM
Amber for LongQT
Created: 4 Apr 2022, 6:37 a.m. | Last Modified: 4 Apr 2022, 6:37 a.m.
Panel Version: 0.12544

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320

Publications

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

Created: 4 Apr 2022, 6:37 a.m.
Last Modified: 4 Apr 2022, 6:37 a.m.
Panel version: Imported from Mendeliome panel version 0.12544

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Phenotypic overlap.
Created: 29 Jun 2020, 10:44 a.m. | Last Modified: 29 Jun 2020, 10:44 a.m.
Panel Version: 0.32
Created: 29 Jun 2020, 10:44 a.m.
Last Modified: 29 Jun 2020, 10:44 a.m.
Panel version: 0.32

Elena Savva (Victorian Clinical Genetics Services)

I don't know

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.

PMID: 26185955 - 2 patients with muscle hypertrophy
Sources: Expert list
Created: 29 Jun 2020, 3:47 a.m.

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

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

Publications

Created: 29 Jun 2020, 3:47 a.m.

Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 2 606072
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CAV3 was added gene: CAV3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to PMID: 27312022; 26185955; 32090499 Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072 Review for gene: CAV3 was set to AMBER