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  2. Monogenic Diabetes
  3. CAV1
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Monogenic Diabetes

Gene: CAV1

Red List (low evidence)
CAV1 (caveolin 1)
EnsemblGeneIds (GRCh38): ENSG00000105974
EnsemblGeneIds (GRCh37): ENSG00000105974
OMIM: 601047, Gene2Phenotype
CAV1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported in 2008.
Created: 13 May 2024, 8:27 p.m. | Last Modified: 13 May 2024, 8:27 p.m.
Panel Version: 0.114
Created: 13 May 2024, 8:27 p.m.
Last Modified: 13 May 2024, 8:27 p.m.
Panel version: 0.114

Hali Van Niel (University of Melbourne)

I don't know

Established gene disease association with Lipodystrophy, familial partial, type 7, and Lipodystrophy, congenital generalized, type 3

PMID 18211975: 2 patients in family with diabetes and CAV1 variant, one homozygous and one heterozygous

Diabetes mellitus typical manifestation with lipodystrophies however only one reported family recorded
Created: 9 May 2024, 5:14 a.m. | Last Modified: 9 May 2024, 5:14 a.m.
Panel Version: 0.107

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
diabetes mellitus MONDO:0005015; congenital generalized lipodystrophy type 1 MONDO:0012071

Publications

Created: 9 May 2024, 5:14 a.m.
Last Modified: 9 May 2024, 5:14 a.m.
Panel version: 0.107

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
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

13 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav1 has been classified as Red List (Low Evidence).

13 May 2024, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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