NSD1 nuclear receptor binding SET domain protein 1

Gene info

Synonyms

histone-lysine N-methyltransferase, H3 lysine-36 specific

Previous symbol

STO

External ID

HGNC: 14234
Entrez Gene: 64324
Ensembl: ENSG00000165671
UCSC: uc003mfr.5
OMIM: 606681
UniProtKB: Q96L73

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale
  • Bicuspid aortic valve
  • Pulmonic stenosis
  • Ebstein's anomaly

Extra Cardiac Phenotype

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1276545

Variant info

Clinvar

NSD1

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Genome browser powered by igv.js

Selected References

  1. Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Türkmen, S., Cormier-Daire, V., Irrthum, A., & Rahman, N. (2005). Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations. The American Journal of Human Genetics, 77(2), 193–204. https://doi.org/10.1086/432082 DOI:10.1086/432082 PMID:15942875
  2. Tei, S., Tsuneishi, S., & Matsuo, M. (2006). The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene. The Kobe Journal of Medical Sciences, 52(1–2), 1–8. PMID:16547423
  3. PICCIONE, M., CONSIGLIO, V., DI FIORE, A., GRASSO, M., CECCONI, M., PERRONI, L., & CORSELLO, G. (2011). Deletion of NSD1 exon 14 in Sotos syndrome: first description. Journal of Genetics, 90(1), 119–123. https://doi.org/10.1007/s12041-011-0017-6 DOI:10.1007/s12041-011-0017-6 PMID:21677396