Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |