Childhood solid tumours 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
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen Breakage Syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Nijmegen Breakage Syndrome
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Haematological malignancies cancer susceptibility
- Clefting
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Nijmegen breakage syndrome
- Childhood solid tumours
- IUGR and IGF abnormalities
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Report biallelic only.
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NBN was created by ellenmcdonagh
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Childhood solid tumourspanel. Sources: Expert list