Insulin resistance (including lipodystrophy)

Gene: CAVIN1

Green List (high evidence)

CAVIN1 (caveolae associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000177469
EnsemblGeneIds (GRCh37): ENSG00000177469
OMIM: 603198, Gene2Phenotype
CAVIN1 is in 5 panels

4 reviews

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
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

PTRF was changed to CAVIN1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from PTRF. Panel: Insulin resistance (including lipodystrophy)

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PTRF were set to 19726876

11 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PTRF were set to Lipodystrophy, congenital generalized, type 4, 613327

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTRF was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTRF was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTRF was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PTRF was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTRF was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen