Multiple bowel polyps
Gene: GREM1Comment when marking as ready: Await V and F decision on founder mutations.Created: 29 Jan 2016, 2:59 p.m.
Comment on list classification: One duplication in the Ashkenazi population. Need to await decision from V and F working group on the way to deal with founder variants.Created: 29 Jan 2016, 2:59 p.m.
Hereditary Mixed Polyposis Syndrome is caused by upregulation of GREM1 expression in colorectal mucosa, due to a 40-kb upstream duplication spanning the 3' end of the SCG5 gene.Created: 8 Dec 2015, 2:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary Mixed Polyposis Syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for GREM1 were set to {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217); Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); Polyposis Syndrome, Hereditary Mixed, 1; Hereditary Mixed Polyposis Syndrome
Publications for GREM1 were set to Nat Genet. 2012 May 6; 44(6):699-703. doi: 10.1038/ng.2263.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
GREM1 was added to Multiple bowel polypspanel. Source: UKGTN
GREM1 was added to Multiple bowel polypspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN