Colorectal Cancer and Polyposis
Gene: MSH2
ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert ReviewCreated: 25 Sep 2024, 10:25 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 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096
Gene: msh2 has been classified as Green List (High Evidence).
Gene: msh2 has been classified as Green List (High Evidence).
gene: MSH2 was added gene: MSH2 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096 Review for gene: MSH2 was set to GREEN