Adult solid tumours cancer susceptibility
Gene: CHEK2EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 9 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted this gene from Green to Amber due to feedback from Lara Hawkes and Clare Turnbull (Cancer Clinical Team, Genomics England), that this gene confers a moderate risk.Created: 20 Aug 2018, 11:54 a.m.
Clare Turnbull (Queen Mary University London)
Tumor Suppressor. Biallelic phenotype.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Breast cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- 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
- Inherited predisposition to acute myeloid leukaemia (AML)
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- GI tract tumours
- Familial prostate cancer
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CHEK2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor. Biallelic ph
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: chek2 has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CHEK2 was added to Adult solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)CHEK2 was added to Adult solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)CHEK2 was created by ellenmcdonagh