NONO non-POU domain containing octamer binding
Gene info
Synonyms
NRB54, NMT55, P54NRB, P54, PPP1R114
Previous symbol
None
External ID
HGNC: 7871
Entrez Gene: 4841
Ensembl: ENSG00000147140
UCSC: uc004dzn.5
OMIM:
300084
UniProtKB:
Q15233
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus
- Patent foramen ovale
- Ebstein's anomaly
Extra Cardiac Phenotype
Neurodevelopmental delay, Failure to thrive, Left ventricular non-compaction cardiomyopathy, Hypopituitarism
Incomplete penetrance
Unknown
Variable expressivity
Yes
Animal model
Mouse study
MGI: no cardiovascular defect recorded
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for NONO: BED file
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Selected References
- Scott, D. A., Hernandez-Garcia, A., Azamian, M. S., Jordan, V. K., Kim, B. J., Starkovich, M., … Xia, F. (2016). Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants inNONO. Journal of Medical Genetics, 54(1), 47–53. DOI:10.1136/jmedgenet-2016-104039 PMID:27550220
- Sewani, M., Nugent, K., Blackburn, P. R., Tarnowski, J. M., Hernandez‐Garcia, A., Amiel, J., … Scott, D. A. (2019). Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO. American Journal of Medical Genetics Part A, 182(4), 652–658. DOI:10.1002/ajmg.a.61466
- Carlston, C. M., Bleyl, S. B., Andrews, A., Meyers, L., Brown, S., Bayrak-Toydemir, P., … Botto, L. D. (2019). Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. American Journal of Medical Genetics Part A, 179(5), 792–796. DOI:10.1002/ajmg.a.61091 PMID:30773818