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  3. CELA3B
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Pancreatitis

Gene: CELA3B

Amber List (moderate evidence)
CELA3B (chymotrypsin like elastase family member 3B)
EnsemblGeneIds (GRCh38): ENSG00000219073
EnsemblGeneIds (GRCh37): ENSG00000219073
CELA3B is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 33565216 - p.Arg90Cys (c.268C>T) identified in a chronic pancreatitis (also diabetes and pancreatic adenocarcinoma present in some individuals) pedigree. Variant was present in 2 affected individuals and not present in 7 healthy relatives. Also, supporting in vitro functional assays demonstrating gain of function mechanism for R90C and R90L, and supporting mouse model. PMID: 31369399 - p.Arg90Leu (c.269G>T) identified in 4 French chronic pancreatitis cases and 0 controls. However, there are 229 hets in gnomAD v2.1 with this variant.
Sources: Literature
Created: 9 Apr 2021, 3:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chronic pancreatitis

Publications

Mode of pathogenicity
Other

Created: 9 Apr 2021, 3:36 a.m.

Panel version: 1.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chronic pancreatitis
Clinvar variants
Variants in CELA3B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

9 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cela3b has been classified as Amber List (Moderate Evidence).

9 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cela3b has been classified as Amber List (Moderate Evidence).

9 Apr 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

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 Publications for gene: CELA3B were set to 31369399; 33565216 Phenotypes for gene: CELA3B were set to Chronic pancreatitis Mode of pathogenicity for gene: CELA3B was set to Other Review for gene: CELA3B was set to AMBER