ClinGen Dosage Sensitivity Curation Page

SUPT16H

  • Curation Status: Complete

Location Information

Select assembly: (NC_000014.8) (NC_000014.9)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Originally targeted for 14q11.2 deletion syndrome (mild developmental delay, cognitive impairment, and minor physical abnormalities). Minimal 14q11.2 region is 35 kilobases and includes 2 genes, SUPT16H and CHD8 (Zahir et al 2007, PMID: 17545556). Mutations of SUPT16H alone have not been reported in human patients.

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