This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: NBN
NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 24 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Homologous recombination
- Activity: Mutated in Nijmegen breakage syndrome
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Clefting
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Severe microcephaly
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Nijmegen breakage syndrome
- IUGR and IGF abnormalities
- Monogenic short stature
- Fetal anomalies
- DDG2P
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: changed gene symbol to approve
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NBN was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database