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  3. GREM1
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Colorectal Cancer and Polyposis

Gene: GREM1

Green List (high evidence)
GREM1 (gremlin 1, DAN family BMP antagonist)
EnsemblGeneIds (GRCh38): ENSG00000166923
EnsemblGeneIds (GRCh37): ENSG00000166923
OMIM: 603054, Gene2Phenotype
GREM1 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants.

Four variants leading to partial or complete duplication of GREM1 regulatory regions or coding sequences have been reported, resulting in increased allele-specific GREM1 expression. Most are carriers of the Ashkenazi founder variant, a 40kb duplication upstream of GREM1 (SCG5-GREM1 dup).
Sources: Expert list, Expert Review, Literature
Created: 25 Sep 2024, 10:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Hereditary mixed polyposis syndrome, MONDO:0011023; GREM1-associated polyposis, no MIM#

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

Created: 25 Sep 2024, 10:28 p.m.

Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Hereditary mixed polyposis syndrome, MONDO:0011023
  • GREM1-associated polyposis, no MIM#
OMIM
603054
Clinvar variants
Variants in GREM1
Penetrance
None
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
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GREM1 were changed from to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Hereditary mixed polyposis syndrome, MONDO:0011023; GREM1-associated polyposis, no MIM#

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set mode of pathogenicity

Chirag Patel (Genetic Health Queensland)

gene: GREM1 was added gene: GREM1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: GREM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREM1 were set to PMID: 22561515, 25419707 Mode of pathogenicity for gene: GREM1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: GREM1 was set to GREEN