Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Colorectal Cancer and Polyposis v0.40 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Colorectal Cancer and Polyposis v0.40 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.36 PMS2 Chirag Patel Classified gene: PMS2 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.36 PMS2 Chirag Patel Gene: pms2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.25 PMS2 Chirag Patel gene: PMS2 was added
gene: PMS2 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101
Review for gene: PMS2 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.

Note: there is a high level of homology between PMS2 and pseudogenes
Sources: Expert list, Expert Review