This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Nijmegen Breakage Syndrome Lymphoid hematological malignancy
- Medulloblastoma
- Glioma
- Rhabdomyosarcoma
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Intellectual disability
- Severe microcephaly
- Primary ovarian insufficiency
- COVID-19 research
- Clefting
- Monogenic short stature
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Nijmegen breakage syndrome
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited ovarian cancer (without breast cancer)
- DDG2P
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NBN was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)