Interstitial Lung Disease
Gene: CAV1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Co-occurrence of lipodystrophy and PAH reported in the same family. Onset in infancy/childhood.
Created: 8 Nov 2021, 12:57 a.m. | Last Modified: 8 Nov 2021, 12:57 a.m.

Panel Version: 0.325

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 8 Nov 2021, 12:57 a.m.
Last Modified: 8 Nov 2021, 12:57 a.m.
Panel version: 0.325

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

At least 3 unrelated families reported.
Supportive functional studies.
Created: 6 Nov 2021, 10:51 p.m. | Last Modified: 6 Nov 2021, 10:51 p.m.

Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital generalised lipodystrophy; Childhood pulmonary arterial hypertension.

Publications

PMID: 27717241
22474227.

Created: 6 Nov 2021, 10:51 p.m.
Last Modified: 6 Nov 2021, 10:51 p.m.
Panel version: 0.183

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Pulmonary hypertension, primary, 3, MIM# 615343
Lipodystrophy, familial partial, type 7, MIM# 606721

OMIM

601047

Clinvar variants

Variants in CAV1

Penetrance

None

Publications

Panels with this gene