Inherited ovarian cancer (without breast cancer)

Gene: CHEK2

Red List (low evidence)

CHEK2 (checkpoint kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 8 panels

0 reviews

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

History Filter Activity

31 Jul 2017, Gel status: 1

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.

26 May 2017, Gel status: 1

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

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHEK2 was created by ellenmcdonagh