Inherited ovarian cancer (without breast cancer)
Gene: CHEK2EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 9 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Red
- Phenotypes
-
- Li-Fraumeni syndrome, 609265
- Osteosarcoma, somatic, 259500
- {Breast cancer, susceptibility to}, 114480
- {Prostate cancer, familial, susceptibility to}, 176807
- {Breast and colorectal cancer, susceptibility to}
- Breast and Ovarian Cancer
- Breast Cancer
- 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 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.
Added New Source
Ellen McDonagh (Genomics England Curator)CHEK2 was added to Familial ovarian cancerpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)CHEK2 was created by ellenmcdonagh