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Pancreatitis v2.16 CELA3B Eleanor Williams Tag gene-checked tag was added to gene: CELA3B.
Pancreatitis v2.16 CEL Ivone Leong Classified gene: CEL as Amber List (moderate evidence)
Pancreatitis v2.16 CEL Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review by Miranda Durkie. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.
Pancreatitis v2.16 CEL Ivone Leong Gene: cel has been classified as Amber List (Moderate Evidence).
Pancreatitis v2.15 CEL Ivone Leong Phenotypes for gene: CEL were changed from to Hereditary Pancreatitis
Pancreatitis v2.14 CEL Ivone Leong Publications for gene: CEL were set to 29233499; 28881607; 28500240; 27802312; 27650499; 27773618; 26946345; 25774637; 23770712
Pancreatitis v2.13 CEL Ivone Leong Mode of inheritance for gene: CEL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v2.12 CEL Miranda Durkie reviewed gene: CEL: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 16369531, PMID: 34850019; Phenotypes: Hereditary Pancreatitis, Diabetes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v2.12 CELA3B Ivone Leong Tag Q2_21_rating was removed from gene: CELA3B.
Tag Q2_21_NHS_review was removed from gene: CELA3B.
Pancreatitis v2.12 CELA3B Ivone Leong commented on gene: CELA3B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Pancreatitis v2.11 CELA3B Ivone Leong Source Expert Review Green was added to CELA3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pancreatitis v2.10 CELA3B Ivone Leong Classified gene: CELA3B as Amber List (moderate evidence)
Pancreatitis v2.10 CELA3B Ivone Leong Gene: cela3b has been classified as Amber List (Moderate Evidence).
Pancreatitis v2.9 CELA3B Ivone Leong Tag Q2_21_rating tag was added to gene: CELA3B.
Tag Q2_21_NHS_review tag was added to gene: CELA3B.
Pancreatitis v2.9 CELA3B Ivone Leong Phenotypes for gene: CELA3B were changed from Chronic Pancreatitis; Diabetes; Pancreatic cancer to Chronic Pancreatitis, MONDO:0005003; diabetes mellitus (disease), MONDO:0005015; Pancreatic cancer
Pancreatitis v2.8 CELA3B Ivone Leong Publications for gene: CELA3B were set to
Pancreatitis v2.7 CELA3B Miranda Durkie 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
Added comment: 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.
Sources: Literature
Pancreatitis v0.37 CEL Ellen McDonagh edited their review of gene: CEL: Changed rating: RED
Pancreatitis v0.37 CEL Ellen McDonagh Publications for gene: CEL were set to 29233499
Pancreatitis v0.36 CEL Ellen McDonagh Added comment: 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.
Pancreatitis v0.36 CEL Ellen McDonagh Publications for gene: CEL were set to
Pancreatitis v0.21 CEL Ellen McDonagh commented on gene: CEL
Pancreatitis CEL Ellen McDonagh Added gene to panel