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Colorectal Cancer and Polyposis v0.40 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Colorectal Cancer and Polyposis v0.40 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.14 POLD1 Chirag Patel Classified gene: POLD1 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.14 POLD1 Chirag Patel Gene: pold1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.10 POLD1 Chirag Patel edited their review of gene: POLD1: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351, POLD1-associated polyposis, MIM#612591
Colorectal Cancer and Polyposis v0.5 POLD1 Chirag Patel gene: POLD1 was added
gene: POLD1 was added to Colorectal Cancer and Polyposis. 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 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. Colorectal cancers and/or polyposis reported in condition. GOF variants.
Sources: Expert list, Expert Review