This Panel is marked as Internal
Tumour predisposition - adult onset
Gene: NBN
NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 25 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Familial breast cancer
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Fetal anomalies
- Inherited ovarian cancer (without breast cancer)
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Nijmegen breakage syndrome
- Osteogenesis imperfecta
- Monogenic short stature
- IUGR and IGF abnormalities
- Childhood solid tumours
- Sarcoma of possible germline origin
- Clefting
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Severe microcephaly
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
31 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NBN was added gene: NBN was added to Tumour predisposition - adult onset. Sources: Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Red Mode of inheritance for gene: NBN was set to Unknown Phenotypes for gene: NBN were set to Brain, CNS, and PNS Cancer