Pancreatitis

Gene: CTSB

I don't know

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: CTSB; Suggested intial gene rating: Amber; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 7 Jan 2019, 4:15 p.m.

Red List (low evidence)

Comment on publications: Polymorphisms in this gene have been associated with pancreatitis or tropical calcific pancreatitis, and the cathepsin B gene is involved in the pathology of pancreatitis (see publications). There does not seem to be enough evidence at this time for rare loss of function variants in this gene to be causative of hereditary pancreatitis.

Created: 6 Dec 2018, 1:55 p.m.

Comment on publications: Polymorphisms in this gene have been associated with pancreatitis or tropical calcific pancreatitis, and the cathepsin B gene is involved in the pathology of pancreatitis (see publications). There does not seem to be enough evidence at this time for rare loss of function variants in this gene to be causative of hereditary pancreatitis.

Created: 6 Dec 2018, 1:55 p.m.

Comment on publications: PMID: 30455353 - CTSC-deletion in mild and severe pancreatitis in vivo models was found to reduce the severity of pancreatitis compared to control mice.

Created: 6 Dec 2018, 1:47 p.m.

Not associated with pancreatitis in OMIM or Gene2Phenotype.

Created: 6 Dec 2018, 1:02 p.m.