SETD5 SET domain containing 5
- 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
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.
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 SETD5: BED file
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- 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. https://doi.org/10.1111/cge.13132 DOI:10.1111/cge.13132 PMID:28881385