Inherited polyposis
Gene: GREM1Comment 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.
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
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
Gene: grem1 has been classified as Amber List (Moderate Evidence).
Gene: grem1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: GREM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: grem1 has been classified as Green List (High Evidence).
gene: GREM1 was added gene: GREM1 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: GREM1 was set to