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Multiple bowel polyps

Gene: GREM1

Red List (low evidence)
GREM1 (gremlin 1, DAN family BMP antagonist)
EnsemblGeneIds (GRCh38): ENSG00000166923
EnsemblGeneIds (GRCh37): ENSG00000166923
OMIM: 603054, Gene2Phenotype
GREM1 is in 8 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment 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.
Created: 29 Jan 2016, 2:59 p.m.

Panel version: 0.14

Ian Frayling (Cardiff University)

Green List (high evidence)

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

  • Nat Genet. 2012 May 6
  • 44(6):699-703. doi: 10.1038/ng.2263.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 8 Dec 2015, 2:36 p.m.

Panel version: 0

Details

Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {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
OMIM
603054
Clinvar variants
Variants in GREM1
Penetrance
Complete
Publications
  • Nat Genet. 2012 May 6
  • 44(6):699-703. doi: 10.1038/ng.2263.
Panels with this gene

History Filter Activity

1 Mar 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

1 Mar 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GREM1 were set to Nat Genet. 2012 May 6; 44(6):699-703. doi: 10.1038/ng.2263.

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GREM1 was added to Multiple bowel polypspanel. Source: UKGTN

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GREM1 was added to Multiple bowel polypspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN