The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:39 p.m. | Last Modified: 3 Mar 2022, 4:39 p.m.
Panel Version: 2.12
Comment on list classification: New gene added by Miranda Durkie. This gene is not associated with a phenotype in OMIM or Gene2Phenotype.
PMID: 31369399. Other affected members of this large family could not be tested and therefore the genetic status of the affected individuals are unknown. The family also has a variant in FOXN1, as the gene is not expressed in the pancreas the authors hypothesised that the FOXN1 variant was not causative.
PMID: 33565216. Four patients with p.Arg90Leu (c.269G>T) were from cases with familial chronic pancreatitis and young cases with idiopathic chronic pancreatitis (2 each). The familial chronic pancreatitis cases each have an affected first‐degree relative who have not been analysed yet.
This gene has been added as an Amber gene and will be reviewed by the GMS specialist group to see if there is enough evidence to promote to Green status.
Created: 12 Apr 2021, 10:13 a.m. | Last Modified: 12 Apr 2021, 10:13 a.m.
Panel Version: 2.10
PMID: 31369399 - 1 large family with 17 affected family members across 4 generations. Exome sequencing identified c.268C>T p.(Arg90Cys) in CELA3B gene in affected mother and affected daughter (not present in unaffected son). Does not segregate with disease in a further 6 unaffected family members. Functional studies showed both this variant and p.(Arg90Leu) variants cause translational upregulation of CELA3B, which, upon secretion and activation by
trypsin, leads to uncontrolled proteolysis and recurrent pancreatitis.
PMID: 33565216 - Sequenced CELA3B in 644 genetically unexplained French chronic pancreatitis (CP) patients (all unrelated) and 566 controls. No loss of function variants found, however found p.Arg90Leu (c.269G>T) in four patients but no controls.
Therefore 5 families identified with p.(Arg90Cys) or p.(Arg90Leu) and supporting functional assay for these variants only.
Created: 25 Feb 2021, 11:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chronic Pancreatitis; Diabetes; Pancreatic cancer
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag gene-checked tag was added to gene: CELA3B.
Tag Q2_21_rating was removed from gene: CELA3B. Tag Q2_21_NHS_review was removed from gene: CELA3B.
Source Expert Review Green was added to CELA3B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cela3b has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: CELA3B. Tag Q2_21_NHS_review tag was added to gene: CELA3B.
Phenotypes for gene: CELA3B were changed from Chronic Pancreatitis; Diabetes; Pancreatic cancer to Chronic Pancreatitis, MONDO:0005003; diabetes mellitus (disease), MONDO:0005015; Pancreatic cancer
Publications for gene: CELA3B were set to
gene: CELA3B was added gene: CELA3B was added to Pancreatitis. Sources: Literature Mode of inheritance for gene: CELA3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CELA3B were set to Chronic Pancreatitis; Diabetes; Pancreatic cancer Penetrance for gene: CELA3B were set to Incomplete Mode of pathogenicity for gene: CELA3B was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CELA3B was set to GREEN