This Panel is marked as Retired
Multiple Tumours
Gene: CHEK2
CHEK2 (checkpoint kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 10 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: On the UKGTN Hereditary Cancers 82 Gene Panel.Created: 18 Apr 2017, 1:25 p.m.
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- UKGTN
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Breast cancer
- OMIM
- 604373
- Clinvar variants
- Variants in CHEK2
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours for rare disease
- Familial breast cancer
- Familial melanoma
- GI tract tumours
- Familial prostate cancer
- Inherited breast cancer and ovarian cancer
- Adult solid tumours cancer susceptibility
- Inherited prostate cancer
- Inherited ovarian cancer (without breast cancer)
- Inherited predisposition to acute myeloid leukaemia (AML)
History Filter Activity
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)CHEK2 was added to Multiple Tumourspanel. Sources: UKGTN
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CHEK2 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CHEK2 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)