GI tract tumours

Gene: CHEK2

Red List (low evidence)

CHEK2 (checkpoint kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 7 panels

3 reviews

Ian Tomlinson (University of Oxford)

Red List (low evidence)

Mode of inheritance

Ellen Thomas (Genomics England Curator)

Comment on list classification: 2 expert reviewers advise red.
Created: 7 Feb 2016, 9:12 p.m.

Ian Frayling (Cardiff University)

Red List (low evidence)

May possibly act as a modifier of colorectal cancer risk, otherwise it is not a major predisposing locus.
Created: 8 Dec 2015, 2:07 p.m.

Mode of inheritance


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Red
  • Colorectal cancer
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Clinvar variants
Variants in CHEK2
Panels with this gene

History Filter Activity

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: 0


Ellen McDonagh (Genomics England Curator)

CHEK2 was created by ellenmcdonagh

11 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHEK2 was added to GI tractpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert Review Red