1. Panels
  2. Newborns main panel
  3. CAV1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: CAV1

Green List (high 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 loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy - PubMed (nih.gov) 5 cases, 3 variants
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
are we not interested in AD Lipodystrophy, familial partial, type 7? -> KS: Added another row for the AD phenotype but not sure there's enough evidence for either to make the final list.
Created: 17 May 2023, 1:51 p.m. | Last Modified: 17 May 2023, 1:51 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:51 p.m.
Last Modified: 17 May 2023, 1:51 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lipodystrophy, congenital generalized, type 3
OMIM
601047
Clinvar variants
Variants in CAV1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lipodystrophy, congenital generalized, type 3 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

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 BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Lipodystrophy, congenital generalized, type 3 for gene: CAV1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CAV1 were changed from ?Lipodystrophy, congenital generalized, type 3; Lipodystrophy, congenital generalized, type 3 to Lipodystrophy, congenital generalized, type 3

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CAV1. Added phenotypes Lipodystrophy, congenital generalized, type 3 for gene: CAV1 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ?Lipodystrophy, congenital generalized, type 3 for gene: CAV1

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CAV1 was added gene: CAV1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal