This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
- Sources
-
- 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
- Panels with this gene
-
- Sarcoma susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- Fetal anomalies
- Childhood solid tumours
- DDG2P
- Monogenic short stature
- Inherited ovarian cancer (without breast cancer)
- Clefting
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Childhood solid tumours cancer susceptibility
- Nijmegen breakage syndrome
- Familial breast cancer
- Haematological malignancies cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Osteogenesis imperfecta
- Severe microcephaly
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Sarcoma of possible germline origin
History Filter Activity
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NBN was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Radboud University Medical Center, Nijmegen