Extreme early-onset hypertension

Gene: CAV1

Red List (low evidence)

CAV1 (caveolin 1)
EnsemblGeneIds (GRCh38): ENSG00000105974
EnsemblGeneIds (GRCh37): ENSG00000105974
OMIM: 601047, Gene2Phenotype
CAV1 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with pulmonary hypertension, not systemic.
Created: 3 Aug 2016, 8:32 a.m.

Fiona Karet (Universit y of Cambridge)

Red List (low evidence)

Phenotypes
Pulmonary HT

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Pulmonary hypertension, primary, 3, 615343
OMIM
601047
Clinvar variants
Variants in CAV1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

3 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Pulmonary hypertension, primary, 3, 615343

3 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CAV1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CAV1 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen