Monogenic short stature
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 Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that NBN should be included on the panel. Therefore kept rating as Green.Created: 30 May 2019, 9:34 a.m.
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Nijmegen.Created: 14 May 2019, 1:25 p.m.
Phenotypes
Nijmegen
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Nijmegen breakage syndrome, OMIM:251260
- OMIM
- 602667
- Clinvar variants
- Variants in NBN
- Penetrance
- None
- Panels with this gene
-
- Clefting
- Childhood solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Severe microcephaly
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- Osteogenesis imperfecta
- COVID-19 research
- DDG2P
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Sarcoma susceptibility
- Sarcoma of possible germline origin
- IUGR and IGF abnormalities
- Intellectual disability
- Nijmegen breakage syndrome
- Childhood solid tumours
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: NBN was added gene: NBN was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, OMIM:251260