Lipodystrophy_Lipoatrophy
Gene: CAV1

CAV1 (caveolin 1)
EnsemblGeneIds (GRCh38): ENSG00000105974
EnsemblGeneIds (GRCh37): ENSG00000105974
OMIM: 601047, Gene2Phenotype
CAV1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 families reported with mono-allelic variants, and one with bi-allelic variants. Mouse model.
Created: 26 Apr 2021, 10:56 a.m. | Last Modified: 26 Apr 2021, 10:56 a.m.

Panel Version: 0.34

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721; Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526

Publications

Created: 26 Apr 2021, 10:56 a.m.
Last Modified: 26 Apr 2021, 10:56 a.m.
Panel version: 0.34

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721
Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526

OMIM

601047

Clinvar variants

Variants in CAV1

Penetrance

None

Publications

Panels with this gene