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 7 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.

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Louise Daugherty (Genomics England Curator)

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

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.

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