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GI tract tumours
Gene: CHEK2

CHEK2 (checkpoint kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 9 panels

3 reviews

Ian Tomlinson (University of Oxford)

Red List (low evidence)

Mode of inheritance
Unknown

Created: 5 Nov 2017, 2:48 a.m.

Panel version: Imported from "Familial colon cancer" panel version 0

Ellen Thomas (Genomics England Curator)

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

Created: 7 Feb 2016, 9:12 p.m.

Panel version: Imported from "Familial colon cancer" panel version 0.3

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
Unknown

Created: 8 Dec 2015, 2:07 p.m.

Panel version: Imported from "Familial colon cancer" panel version 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Expert Review Red

Phenotypes

Colorectal cancer
Gastrointestinal and Colorectal Cancer
High Risk Colorectal Cancer

OMIM

604373

Clinvar variants

Variants in CHEK2

Penetrance

Complete

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

Created

Ellen McDonagh (Genomics England Curator)

CHEK2 was created by ellenmcdonagh

11 May 2017, Gel status: 1

Added New Source