Pancreatitis
Gene: CTRB2
CTRB2 (chymotrypsinogen B2)
EnsemblGeneIds (GRCh38): ENSG00000168928
EnsemblGeneIds (GRCh37): ENSG00000168928
CTRB2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000168928
EnsemblGeneIds (GRCh37): ENSG00000168928
CTRB2 is in 1 panel
1 review
Ellen McDonagh (Genomics England Curator)
This gene is not found in OMIM. PMID: 28754779 - identified CTRB1-CTRB2 as a new risk locus for alcoholic chronic pancreatitis and non-alcoholic chronic pancreatitis. A 16.6 kb inversion in the CTRB1-CTRB2 locus was in linkage disequilibrium with the CP-associated SNPs and was best tagged by rs8048956, reported to changes the expression ratio of the CTRB1 and CTRB2 isoforms and thereby affects protective trypsinogen degradation and ultimately pancreatitis risk. PMID: 28951524 found no association in the Chinese population. Not enough evidence at this time for this to be a cause of monogenic pancreatitis.Created: 6 Dec 2018, 12:29 p.m.
Phenotypes
risk factor for alcoholic/non-alcoholic chronic pancreatitis
Publications
Details
- Sources
-
- EUROPAC
- Phenotypes
-
- risk factor for alcoholic and non-alcoholic chronic pancreatitis
- Clinvar variants
- Variants in CTRB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
10 Dec 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ellen McDonagh: This gene is not found in OMIM
6 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: CTRB2 were changed from to risk factor for alcoholic and non-alcoholic chronic pancreatitis
6 Dec 2018, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CTRB2 were set to
2 May 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CTRB2 was added to Pancreatitis panel. Sources: EUROPAC
2 May 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)CTRB2 was created by Ellen McDonagh