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Endometrial Cancer v0.20 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Endometrial Cancer v0.20 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.19 POLD1 Chirag Patel Classified gene: POLD1 as Green List (high evidence)
Endometrial Cancer v0.19 POLD1 Chirag Patel Gene: pold1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.9 POLD1 Chirag Patel gene: POLD1 was added
gene: POLD1 was added to Endometrial Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLD1 were set to Endometrial cancer, MONDO:0011962; POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351; POLD1-associated polyposis, MIM#612591
Mode of pathogenicity for gene: POLD1 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: POLD1 was set to GREEN
Added comment: ClinGen definitive. Endometrial cancers reported in condition. GOF variants.
Sources: Expert list, Expert Review