Childhood solid tumours
Gene: NBNEnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 24 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen Breakage Syndrome
Richard Scott (Genomics England Curator)
Comment on list classification: Comment on list classification: NBS is a well established childhood tumour syndromeCreated: 7 Mar 2016, 11:47 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- 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
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NBN. Added phenotypes Nijmegen Breakage Syndrome for gene: NBN Publications for gene NBN were changed from 22373003 to 12833396
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to NBN. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Richard Scott (North Thames GMC/UCL)NBN was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
Created
Richard Scott (North Thames GMC/UCL)NBN was created by Reviewer_03