Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Pancreatitis v0.28 TRPV6 Bryony Thompson changed review comment from: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature; to: Two studies identified a significant over-representation of loss of function, mainly missense variants (tested in in vitro functional assays) in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature
Pancreatitis v0.28 TRPV6 Bryony Thompson Marked gene: TRPV6 as ready
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.28 TRPV6 Bryony Thompson Classified gene: TRPV6 as Green List (high evidence)
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.27 TRPV6 Bryony Thompson gene: TRPV6 was added
gene: TRPV6 was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV6 were set to 32383311; 31930989
Phenotypes for gene: TRPV6 were set to Early onset chronic pancreatitis susceptibility
Review for gene: TRPV6 was set to GREEN
Added comment: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature