Inherited polyposis

Gene: GREM1

Amber List (moderate evidence)

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

6 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Created: 1 Feb 2019, 10:07 a.m.

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

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

Ellen McDonagh (Genomics England Curator)

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

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.

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hereditary Mixed Polyposis Syndrome
  • Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569)
  • Polyposis Syndrome, Hereditary Mixed, 1
  • Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699)
  • {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217)
OMIM
603054
Clinvar variants
Variants in GREM1
Penetrance
None
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hereditary Mixed Polyposis Syndrome; Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Polyposis Syndrome, Hereditary Mixed, 1; Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217) for gene: GREM1

1 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: grem1 has been classified as Amber List (Moderate Evidence).

31 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: grem1 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: GREM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: grem1 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: GREM1 was added gene: GREM1 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: GREM1 was set to