Pancreatitis
Gene: PRSS2EnsemblGeneIds (GRCh38): ENSG00000275896
OMIM: 601564, Gene2Phenotype
PRSS2 is in 1 panel
3 reviews
Eleanor Williams (Genomics England Curator)
Ensembl identifier not available for GRCh37 (release 82)Created: 8 Jul 2020, 2:04 p.m. | Last Modified: 8 Jul 2020, 2:04 p.m.
Panel Version: 2.4
Ivone Leong (Genomics England Curator)
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: PRSS2; 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 givenCreated: 7 Jan 2019, 4:15 p.m.
Ellen McDonagh (Genomics England Curator)
Could not find evidence for an association with inherited pancreatitis.Created: 6 Dec 2018, 1:16 p.m.
Comment on publications: PMID: 16699518 - the G191R variant in this gene is deemed protective against chronic pancreatitis.Created: 6 Dec 2018, 1:10 p.m.
Comment on publications: PMID: 14695529 - a mutation in PRSS1 causes increased transactivation of PRSS2.Created: 6 Dec 2018, 1:09 p.m.
Comment on publications: Multiple association studies for PRSS1-PRSS2 locus and chronic pancreatitis, tropical calfific pancreatitis, acute pancreatitis, alcoholic and non-alcoholic pancreatitis, sporadic pancreatitis.Created: 6 Dec 2018, 1:07 p.m.
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: PRSS2.
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PRSS2.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ellen McDonagh: Comment on publications: Multi
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: PRSS2 were set to 25253127; 23143602; 27846138; 26784911; 26002935; 26110235; 29884332; 19052022; 15776435; 16699518; 14695529
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: PRSS2 were changed from to {Pancreatitis, chronic, protection against} 167800
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: PRSS2 were set to 25253127; 23143602; 27846138; 26784911; 26002935; 26110235; 29884332; 19052022; 15776435; 16699518; 18362849; 14695529
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: PRSS2 were set to 25253127; 23143602; 27846138; 26784911; 26002935; 26110235; 29884332; 19052022; 15776435; 16699518
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: PRSS2 were set to
Added New Source
Ellen McDonagh (Genomics England Curator)PRSS2 was added to Pancreatitis panel. Sources: EUROPAC
Created
Ellen McDonagh (Genomics England Curator)PRSS2 was created by Ellen McDonagh