PRDM6 PR/SET domain 6
Gene info
Synonyms
None
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
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
1
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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
- ClinVar review status for the variant is criteria provided
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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