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

CHD Phenotype

  • Persistent ductus arteriosus

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null 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.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for PRDM6.

Selected References

  1. Li, N., Subrahmanyan, L., Smith, E., Yu, X., Zaidi, S., Choi, M., … 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. DOI:10.1016/j.ajhg.2016.03.022 PMID:27181681