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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 |