Endometrial Cancer
Gene: POLE
ClinGen definitive. Endometrial cancers reported in condition. GOF variants.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 11:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Endometrial cancer, MONDO:0011962; POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: pole has been classified as Green List (High Evidence).
Gene: pole has been classified as Green List (High Evidence).
gene: POLE was added gene: POLE was added to Endometrial Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: POLE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLE were set to Endometrial cancer, MONDO:0011962; POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083 Mode of pathogenicity for gene: POLE was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: POLE was set to GREEN