Colorectal Cancer and Polyposis
Gene: PMS2
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 ReviewCreated: 25 Sep 2024, 10:26 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
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
Gene: pms2 has been classified as Green List (High Evidence).
Gene: pms2 has been classified as Green List (High Evidence).
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