PRDM6 PR/SET domain 6
Gene info
Synonyms
PRISM, KMT8C
Previous symbol
None
External ID
HGNC: 9350
Entrez Gene: 93166
Ensembl: ENSG00000061455
UCSC: uc003kti.4
OMIM:
616982
UniProtKB:
Q9NQX0
Disease info
Disease
CHD Phenotype
- Patent ductus arteriosus
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
MGI: Homozygous knockout mouse has very mild CHD (thin myocardium)
MGI ID
Variant info
Clinvar
Selected variant
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.
Selected References
- 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