Gastrointestinal neuromuscular disorders

Gene: CAVIN1

Red List (low evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from green to red due to expert review.
Created: 13 Oct 2016, 4:06 p.m.

Neil shah (GOSH)

Red List (low evidence)

not cipo (Chronic Intestinal Pseudobstruction) gene
Created: 12 Oct 2016, 7:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 613327
OMIM
603198
Clinvar variants
Variants in CAVIN1
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

PTRF was changed to CAVIN1

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from PTRF. Panel: Neonatal and familial gastrointestinal neuromuscular disorders

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

13 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

31 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PTRF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PTRF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PTRF was created by sleigh

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PTRF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN