GI tract tumours
Gene: CDH1EnsemblGeneIds (GRCh38): ENSG00000039068
EnsemblGeneIds (GRCh37): ENSG00000039068
OMIM: 192090, Gene2Phenotype
CDH1 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
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: 31 Jul 2019, 12:28 p.m. | Last Modified: 31 Jul 2019, 12:28 p.m.
Panel Version: 1.13
Ellen Thomas (Genomics England Curator)
Comment on list classification: Discussed with CT - penetrance not high enough for clinical utility at this time.Created: 10 May 2016, 8:20 p.m.
Ian Frayling (Cardiff University)
Good evidence that CDH1 predisposes modestly to rectum (and possibly) colon cancerCreated: 8 Dec 2015, 2:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Sources
-
- Expert Review Amber
- Emory Genetics Laboratory
- Phenotypes
-
- Gastrointestinal and Colorectal Cancer
- OMIM
- 192090
- Clinvar variants
- Variants in CDH1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)CDH1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CDH1 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Red