Monogenic diabetes

Gene: CAV1

Red List (low evidence)

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

0 reviews

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
OMIM
601047
Clinvar variants
Variants in CAV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

18 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CAV1 was added gene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: CAV1 was set to Unknown Publications for gene: CAV1 were set to 18211975 Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome