Inherited breast cancer and ovarian cancer
Gene: CHEK2EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 9 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:40 a.m. | Last Modified: 8 Mar 2022, 11:40 a.m.
Panel Version: 0.9
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- {Breast cancer, susceptibility to}, OMIM:114480
- OMIM
- 604373
- Clinvar variants
- Variants in CHEK2
- Penetrance
- None
- Publications
- 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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CHEK2 were changed from to {Breast cancer, susceptibility to}, OMIM:114480
Created, Added New Source, Set mode of inheritance, Set publications
Arina Puzriakova (Genomics England Curator)gene: CHEK2 was added gene: CHEK2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480