Osteogenesis imperfecta
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
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- Childhood solid tumours
- DDG2P
- Inherited ovarian cancer (without breast cancer)
- Monogenic short stature
- Cytopenia - NOT Fanconi anaemia
- Childhood solid tumours cancer susceptibility
- Nijmegen breakage syndrome
- Intellectual disability
- Familial breast cancer
- Haematological malignancies cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Osteogenesis imperfecta
- Cytopenias and congenital anaemias
- Clefting
- Primary ovarian insufficiency
- COVID-19 research
- Severe microcephaly
- Fetal anomalies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Sarcoma of possible germline origin
- Sarcoma susceptibility
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: NBN.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory