Adult solid tumours for rare disease
Gene: CHEK2EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 9 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment on list classification: As per updated information from Clare Turnbull and Lara HawkesCreated: 24 Aug 2018, 2:18 p.m.
Demoted this gene from Green to Amber due to feedback from Lara Hawkes and Clare Turnbull (Cancer Clinical Team, Genomics England), in view of level of risk associated with this gene.Created: 24 Aug 2018, 2:17 p.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
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Breast cancer
- OMIM
- 604373
- Clinvar variants
- Variants in CHEK2
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Helen Brittain (Genomics England Curator)Gene: chek2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: chek2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: chek2 has been classified as Red List (Low Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: CHEK2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)CHEK2 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
Created
Ellen McDonagh (Genomics England Curator)CHEK2 was created by Ellen McDonagh