PRDM6 PR/SET domain 6
- Patent ductus arteriosus
Extra Cardiac Phenotype
Homozygous null mouse has very mild CHD (thin myocardium)
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
No variant passing our criteria was found for PRDM6.
- Li, Subrahmanyan, L., Smith, E., Yu, X., Zaidi, S., Choi, M., Mane, S., Nelson-Williams, C., Behjati, M., Kazemi, M., Hashemi, M., Fathzadeh, M., Narayanan, A., Tian, L., Montazeri, F., Mani, M., Begleiter, M. L., Coon, B. G., Lynch, H. T., … Mani, A. (2016). Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. The American Journal of Human Genetics, 98(6), 1082–1091. https://doi.org/10.1016/j.ajhg.2016.03.022 DOI:10.1016/j.ajhg.2016.03.022 PMID:27181681