GI tract tumours
Gene: GREM1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added 'duplication' and 'structural variant' tag.Created: 11 May 2017, 10:26 a.m.
Comment on list classification: Only duplications, no evidence for SNVs having a role in disease. Keep under review as research evidence accumulates.Created: 10 May 2016, 9:02 a.m.
Gain of function mutations, currently only large upstream duplications describedCreated: 8 Dec 2015, 3:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Source NHS GMS was added to GREM1.
This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Mode of pathogenicity for GREM1 was changed to 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
GREM1 was added to GI tractpanel. Source: Radboud University Medical Center, Nijmegen GREM1 was added to GI tractpanel. Source: UKGTN
GREM1 was added to GI tractpanel. Sources: Literature,Expert Review Red
GREM1 was created by ellenmcdonagh