Pancreatitis

Gene: CEL

Red List (low evidence)

CEL (carboxyl ester lipase)
EnsemblGeneIds (GRCh38): ENSG00000170835
EnsemblGeneIds (GRCh37): ENSG00000170835
OMIM: 114840, Gene2Phenotype
CEL is in 5 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID: 29233499 - suggests CEL is an interesting candidate gene links to pancreatic disease; a recombined allele between CEL and its pseudogene CELP has been discovered which encodes a chimeric protein with impaired secretion increasing the risk for chronic pancreatitis five-fold. However, there are several publications that find no association (see publications). There does not seem to be enough evidence at this time for loss-of-function variants in this gene to be causative of pancreatitis.
Created: 6 Dec 2018, 1:27 p.m.
This gene encodes for carboxyl ester lipase, which is produced by the pancreas and is a major component of pancreatitc juice. It is associated with MODY in OMIM. Not clearly associated with pancreatitis cases in OMIM.
Created: 6 Dec 2018, 12:19 p.m.

History Filter Activity

10 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: This gene encodes for carboxyl

6 Dec 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CEL were set to 29233499

6 Dec 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CEL were set to

2 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CEL was added to Pancreatitis panel. Sources: EUROPAC

2 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CEL was created by Ellen McDonagh