DNA Repair Genes pertinent cancer susceptibility
Gene: CHEK2EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 9 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Other conserved DNA damage response genes
- Activity: Effector kinases
- OMIM
- 604373
- Clinvar variants
- Variants in CHEK2
- Penetrance
- Complete
- Panels with this gene
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- Adult solid tumours for rare disease
- Familial breast cancer
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Inherited predisposition to acute myeloid leukaemia (AML)
- GI tract tumours
- Familial prostate cancer
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
Added New Source
Ellen McDonagh (Genomics England Curator)CHEK2 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
Created
Ellen McDonagh (Genomics England Curator)CHEK2 was created by ellenmcdonagh