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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 |