NSD1 nuclear receptor binding SET domain protein 1

Gene info

Synonyms

ARA267, FLJ22263, KMT3B

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
  • Bicuspid aortic valve
  • Persistent ductus arteriosus
  • Patent foramen ovale
  • Pulmonary stenosis
  • Ventricular septal defect
  • Epstein anomaly

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

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 NSD1: BED file

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Selected References

  1. Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., … 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. DOI:10.1086/432082 PMID:15942875