Sarcoma susceptibility
Gene: NBNEnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 24 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Aplastic anemia, OMIM:609135 and Leukemia, acute lymphoblastic, OMIM:613065Created: 12 Mar 2021, 10:48 a.m. | Last Modified: 12 Mar 2021, 10:48 a.m.
Panel Version: 1.44
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen breakage syndrome, 251260
Helen Brittain (Genomics England Curator)
Causation is clear, at least three cases of rhabdomyosarcoma reported however would expect this to present in a syndromic manner prior to developing a malignancy. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen breakage syndrome, 251260
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Literature
- Expert Review Amber
- Phenotypes
-
- Nijmegen breakage syndrome, OMIM:251260
- Rhabdomyosarcoma (disease), MONDO:0005212
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Haematological malignancies cancer susceptibility
- Clefting
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Nijmegen breakage syndrome
- Childhood solid tumours
- IUGR and IGF abnormalities
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, OMIM:251260; Rhabdomyosarcoma (disease), MONDO:0005212
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to NBN.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NBN was added gene: NBN was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260