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  2. Insulin resistance (including lipodystrophy)
  3. CAVIN1
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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 6 panels

4 reviews

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: 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: 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: 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: 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
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