PRDM6 PR/SET domain 6
- Patent ductus arteriosus
Extra Cardiac Phenotype
MGI: Homozygous knockout 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, N., 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