This Panel is marked as Deleted
Microcephaly Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Clefting
- Severe microcephaly
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Monogenic short stature
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Haematological malignancies for rare disease
- Intellectual disability
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Nijmegen breakage syndrome
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- DDG2P
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)NBN was added to Microcephaly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)NBN was created by Sarah Leigh