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Colorectal Cancer and Polyposis v0.40 | GREM1 | Zornitza Stark Marked gene: GREM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Colorectal Cancer and Polyposis v0.40 | GREM1 | Zornitza Stark Gene: grem1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Colorectal Cancer and Polyposis v0.40 | GREM1 | Zornitza Stark Phenotypes for gene: GREM1 were changed from to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Hereditary mixed polyposis syndrome, MONDO:0011023; GREM1-associated polyposis, no MIM# | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Colorectal Cancer and Polyposis v0.32 | GREM1 | Chirag Patel Classified gene: GREM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Colorectal Cancer and Polyposis v0.32 | GREM1 | Chirag Patel Gene: grem1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Colorectal Cancer and Polyposis v0.29 | GREM1 | Chirag Patel edited their review of gene: GREM1: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Hereditary mixed polyposis syndrome, MONDO:0011023, GREM1-associated polyposis, no MIM# | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Colorectal Cancer and Polyposis v0.29 | GREM1 |
Chirag Patel gene: GREM1 was added gene: GREM1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: GREM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREM1 were set to PMID: 22561515, 25419707 Mode of pathogenicity for gene: GREM1 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: GREM1 was set to GREEN Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants. Four variants leading to partial or complete duplication of GREM1 regulatory regions or coding sequences have been reported, resulting in increased allele-specific GREM1 expression. Most are carriers of the Ashkenazi founder variant, a 40kb duplication upstream of GREM1 (SCG5-GREM1 dup). Sources: Expert list, Expert Review, Literature |