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GI tract tumours

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

5 reviews

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Jan 2019, 4:47 p.m.

Panel version: 1.10

Ellen McDonagh (Genomics England Curator)

Added 'duplication' and 'structural variant' tag.
Created: 11 May 2017, 10:26 a.m.
Created: 11 May 2017, 10:25 a.m.

Panel version: 0.5

Ellen Thomas (Genomics England Curator)

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.
Created: 10 May 2016, 9:02 a.m.

Panel version: Imported from "Familial colon cancer" panel version 0.43

Ian Tomlinson (University of Oxford)

Green List (high evidence)

Gain of function mutations, currently only large upstream duplications described
Created: 8 Dec 2015, 3:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 8 Dec 2015, 3:13 p.m.

Panel version: Imported from "Familial colon cancer" panel version 0

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: Imported from "Multiple bowel polyps" panel version 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Red
  • Literature
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
Tags
structural-variant
OMIM
603054
Clinvar variants
Variants in GREM1
Penetrance
Complete
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
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GREM1.

12 May 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

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

11 May 2017, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

11 May 2017, 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

11 May 2017, 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

11 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GREM1 was added to GI tractpanel. Source: Radboud University Medical Center, Nijmegen GREM1 was added to GI tractpanel. Source: UKGTN

11 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GREM1 was added to GI tractpanel. Sources: Literature,Expert Review Red

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GREM1 was created by ellenmcdonagh