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  2. Insulin resistance (including lipodystrophy)
  3. CAV1
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Insulin resistance (including lipodystrophy)

Gene: CAV1

Red List (low evidence)
CAV1 (caveolin 1)
EnsemblGeneIds (GRCh38): ENSG00000105974
EnsemblGeneIds (GRCh37): ENSG00000105974
OMIM: 601047, Gene2Phenotype
CAV1 is in 7 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Red List (low evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Robert Semple (University of Cambridge)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Generalised Lipodystrophy

Publications

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and Lipodystrophy, congenital generalized, type 3, 612526 in G2P. Two variant reported (one each in Lipodystrophy, congenital generalized, type 3, 612526 and Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721). Phenotype does not match criteria as it does not include Acanthosis nigricans
Created: 11 Aug 2016, 11:45 a.m.
Comment on phenotypes: Also associated with Pulmonary hypertension, primary, 3, 615343
Created: 11 Aug 2016, 11:40 a.m.
Created: 11 Aug 2016, 11:40 a.m.

Panel version: 0.31

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721
OMIM
601047
Clinvar variants
Variants in CAV1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 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).

11 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CAV1 were set to 18211975

11 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen