ClinGen Dosage Sensitivity Curation Page

PRDM6

  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PRDM6 encodes a SET-domain containing nuclear protein specific to vascular smooth muscle cells with histone methyltransferase (HMT) activity. There is currently insufficient evidence that haploinsufficiency of this gene is associated with constitutional phenotypes. Additional Literature: Li et al., 2016 (PMID: 27181681) used combined genome-wide linkage and whole-exome sequencing of a cohort of 35 patients with autosomal dominant non-syndromic familial patent ductus arteriosus to identify 3 independent missense (amino-acid substitution) mutations in PRDM6. Functional analysis by in vitro expression of wild-type vs. mutant constructs showed these proteins were expressed, but were mislocalized intracellularly and/or exhibited altered enzymatic HMT activity. The authors propose a loss-of-function effect of these mutations via intracellular redistribution of the protein and/or by alteration of its MT activities.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

There is currently no evidence that triplosensitivity of this gene is associated with constitutional phenotypes.