ClinGen Dosage Sensitivity Curation Page

MKRN3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
9613204 Nicholls et al. (1998) review the IC regions of PWS. MKRN3 is not included.
19066619 Kanber et al. (2009) report on 2 patients with PWS that have atypical 15q11 deletions including SNRPN, but that do not include MKRN3, MAGEL2 and NDN, suggesting that deletion of these 3 genes do not cause the PWS phenotype.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

PMID:18925931 Cai et al. (2008) identified a de novo 120 kb duplication including MKRN3, MAGEL2, and NDN using MLPA probes in monozygotic twins with autism.