ClinGen Dosage Sensitivity Curation Page

PLAGL1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

No evidence for haploinsufficiency.

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

Triplosensitivity phenotype comment:

Docherty et al (PMID 20668833) reduced the minimal transient neonatal diabetes mellitus (TNDM) critical region to 160-173 kb, containing only the genes PLAGL1 and HYMAI. However, since duplications of only PLAGL1 have not been reported, this gene was scored as 0, but the region was scored as 3 for triplosensivity.