Cytopenias and congenital anaemias
Gene: NBNEnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 24 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotypes in OMIM, and as a confirmed G2P gene for Nijmegen breakage syndrome, 251260. One variant reported in 3 unrelated cases of Leukemia, acute lymphoblastic 613065 and in one case of Aplastic anemia 609135Created: 9 Mar 2017, 4:32 p.m.
Phenotypes
Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065; Nijmegen breakage syndrome, 251260
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Aplastic anemia, 609135
- Leukemia, acute lymphoblastic, 613065
- Nijmegen breakage syndrome, 251260
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NBN was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)NBN was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green
Set publications
Sarah Leigh (Genomics England Curator)Publications for NBN were set to 11325820; 15338273
Set publications
Sarah Leigh (Genomics England Curator)Publications for NBN were set to 11325820; 15338273
Added New Source
Louise Daugherty (Genomics England Curator)NBN was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Louise Daugherty (Genomics England Curator)NBN was created by LouiseD