Haematological malignancies for rare disease
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
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: BM failure syndrome (typ AR)
- NHL (non-Hodgkin lymphoma)
- glioma
- medulloblastoma
- rhabdomyosarcoma
- Nijmegen breakage syndrome
- Non-Hodgkin lymphoma and ALL (primarily T cell), Lymphoma
- Rare reports of brain tumors, rhabdomyosarcoma
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- None
- Publications
-
- 28297620
- Cancer Gene Census
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Nijmegen breakage syndrome
- Osteogenesis imperfecta
- Monogenic short stature
- Severe microcephaly
- IUGR and IGF abnormalities
- Childhood solid tumours
- Sarcoma of possible germline origin
- Clefting
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)NBN was created by Ellen McDonagh