1. Panels
  2. Newborns additional phenotypes panel 1
  3. CAV1
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns additional phenotypes panel 1

Gene: CAV1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
PMID: 34935636
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Lipodystrophy, familial partial, type 7
OMIM
601047
Clinvar variants
Variants in CAV1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

31 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: cav1 has been classified as Amber List (Moderate Evidence).

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lipodystrophy, familial partial, type 7 for gene: CAV1

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: CAV1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CAV1. Mode of inheritance for gene CAV1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Lipodystrophy, familial partial, type 7 for gene: CAV1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: CAV1 was added gene: CAV1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAV1 were set to Lipodystrophy, familial partial, type 7 Mode of pathogenicity for gene: CAV1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments