Clefting
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
1 review
Rebecca Foulger (Genomics England curator)
Although cleft lip and cleft palate listed in OMIM Clinical Synopsis for Nijmegen breakage syndrome, clefting reported in individual patient so (after agreement with clinical team), rated red.Created: 31 May 2017, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen breakage syndrome, 251260; NBS
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Nijmegen breakage syndrome, 251260
- NBS
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- Complete
- Publications
- 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
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NBN was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NBN was created by ellenmcdonagh