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Endometrial Cancer v0.20 POLE Zornitza Stark Marked gene: POLE as ready
Endometrial Cancer v0.20 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 POLE Chirag Patel Classified gene: POLE as Green List (high evidence)
Endometrial Cancer v0.20 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Endometrial Cancer v0.10 POLE Chirag Patel 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
Added comment: ClinGen definitive. Endometrial cancers reported in condition. GOF variants.
Sources: Expert list, Expert Review