ClinGen Dosage Sensitivity Curation Page

HYMAI

  • 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:

This gene, which generates an untranslated mRNA, overlaps a differentially methylated region (DMR) on chromosome 6. Paternally-derived duplications of this region, which also includes ZAC/PLAGL1, account for approximately 40% of cases of transient neonatal diabetes mellitus (TNDM). There is no evidence that mutations in HYMAI result in TNDM, but targeting the region including HYMAI and ZAC/PLAGL1 is appropriate.

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