SETD5 SET domain containing 5

Gene info



Previous symbol


External ID

HGNC: 25566
Entrez Gene: 55209
Ensembl: ENSG00000168137
UCSC: uc003brt.3
OMIM: 615743
UniProtKB: Q9C0A6

Disease info

CHD Phenotype

  • Atrioventricular septal defect
  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Pulmonary stenosis

Extra Cardiac Phenotype

developmental delay, behavioral/psychiatric issues, and variable hand and skeletal abnormalities

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous inactivation of this gene in mice causes embryonic or fetal lethality. Observed phenotypes include embryonic growth retardation, impaired neural tube formation, somitogenesis and cardiac development, abnormal vasculogenesis in embryos, yolk sacs and placentas, hemorrhage and increased apoptosis.


Variant info


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 SETD5: BED file

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Selected References

  1. Powis, Z., Farwell Hagman, K. D., Mroske, C., McWalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro-Dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., … Tang, S. (2018). Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Clinical Genetics, 93(4), 752–761. Portico. DOI:10.1111/cge.13132 PMID:28881385