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Pancreatitis v1.4 PRSS1 Ivone Leong Marked gene: PRSS1 as ready
Pancreatitis v1.4 PRSS1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pancreatitis v1.4 PRSS1 Ivone Leong Gene: prss1 has been classified as Green List (High Evidence).
Pancreatitis v1.4 PRSS1 Ivone Leong reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.3 PRSS1 Ivone Leong Source NHS GMS was added to PRSS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v0.48 PRSS1 Ellen McDonagh Added comment: Comment on mode of pathogenicity: Seems to be a gain-of-function mechanism.
Pancreatitis v0.48 PRSS1 Ellen McDonagh Mode of pathogenicity for gene: PRSS1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Pancreatitis v0.43 PRSS1 Ellen McDonagh commented on gene: PRSS1
Pancreatitis v0.29 PRSS2 Ellen McDonagh Added comment: Comment on publications: PMID: 14695529 - a mutation in PRSS1 causes increased transactivation of PRSS2.
Pancreatitis v0.29 PRSS2 Ellen McDonagh Added comment: Comment on publications: PMID: 14695529 - a mutation in PRSS1 causes increased transactivation of PRSS2.
Pancreatitis v0.28 PRSS2 Ellen McDonagh Added comment: 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.
Pancreatitis v0.9 PRSS1 Eleanor Williams Tag cnv tag was added to gene: PRSS1.
Pancreatitis v0.9 PRSS1 Eleanor Williams Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary 167800
Pancreatitis v0.8 PRSS1 Eleanor Williams Added comment: Comment on publications: Publications from OMIM
Pancreatitis v0.8 PRSS1 Eleanor Williams Publications for gene: PRSS1 were set to
Pancreatitis v0.7 PRSS1 Eleanor Williams Mode of inheritance for gene: PRSS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.6 PRSS1 Eleanor Williams Classified gene: PRSS1 as Green List (high evidence)
Pancreatitis v0.6 PRSS1 Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases of plausible disease causing variants associated with the disorder.
Pancreatitis v0.6 PRSS1 Eleanor Williams Gene: prss1 has been classified as Green List (High Evidence).
Pancreatitis v0.5 PRSS1 Eleanor Williams reviewed gene: PRSS1: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis PRSS1 Ioannis Sarantitis reviewed gene: PRSS1
Pancreatitis PRSS1 Ellen McDonagh Added gene to panel