1. Panels
  2. Lipodystrophy - childhood onset
  3. CAVIN1
STRs in panel
Prev Next
Regions in panel
Prev Next

Lipodystrophy - childhood onset

Gene: CAVIN1

Green List (high evidence)
CAVIN1 (caveolae associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000177469
EnsemblGeneIds (GRCh37): ENSG00000177469
OMIM: 603198, Gene2Phenotype
CAVIN1 is in 6 panels

5 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:20 p.m.
Created: 5 Feb 2019, 2:20 p.m.

Panel version: 1.0

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Panel version: Imported from Insulin resistance (including lipodystrophy) panel version 0

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Generalised Lipodystrophy with Myopathy and Cardiac Conduction Disturbance

Publications

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

Panel version: Imported from Insulin resistance (including lipodystrophy) panel version 0

Louise Daugherty (Genomics England Curator)

Added new gene name tag. New approved gene symbol is CAVIN1
Created: 8 May 2017, 11:20 a.m.
Created: 8 May 2017, 11:20 a.m.

Panel version: Imported from Insulin resistance (including lipodystrophy) panel version 1.1

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 11 Aug 2016, 11:26 a.m.
Created: 11 Aug 2016, 11:26 a.m.

Panel version: Imported from Insulin resistance (including lipodystrophy) panel version 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
OMIM
603198
Clinvar variants
Variants in CAVIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

4 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cavin1 has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: CAVIN1 was added gene: CAVIN1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAVIN1 were set to 19726876 Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327