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

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.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for NONO: BED file

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Selected References

  1. 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
  2. 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
  3. 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