Familial breast cancer
Gene: NBN
NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 25 panels
1 review
Paul Pharoah (University of Cambridge)
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Breast and Ovarian Cancer
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma of possible germline origin
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- COVID-19 research
- Clefting
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Monogenic short stature
- Severe microcephaly
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Intellectual disability
- Nijmegen breakage syndrome
- IUGR and IGF abnormalities
- Inherited ovarian cancer (without breast cancer)
- DDG2P
History Filter Activity
27 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)NBN was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory