Genes in panel
Prev
Next
STRs in panel
Prev
Next
Regions in panel
Prev
Next
Nijmegen breakage syndrome
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #251260) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:32 a.m. | Last Modified: 29 Dec 2025, 11:32 a.m.
Panel Version: 1.2
NBN has been added to the panel for R259.2 Nijmegen breakage syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:19 p.m. | Last Modified: 30 Jun 2023, 3:19 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Nijmegen breakage syndrome, OMIM:251260
- Nijmegen breakage syndrome, MONDO:0009623
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- None
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, OMIM:251260; Nijmegen breakage syndrome, MONDO:0009623
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: NBN was added gene: NBN was added to Nijmegen breakage syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal