ClinGen Dosage Sensitivity Curation Page

14q11.2 region including CHD8 and SUPT16H

  • Curation Status: Complete

Links

  • id: ISCA-37438
  • Date last evaluated: 2012-05-09
  • Issue Type: ClinGen Region Curation
  • ClinGen Haploinsufficiency Score: 2
  • ClinGen Triplosensitivity Score: 0


Location Information

Select assembly: () ()
  • Haploinsufficiency score: 2
  • Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
17545556 Zahir et al. describe three unrelated probands with developmental delays and similar dysmorphic features with de novo deletions involving 14q11.2. The minimal region of overlap was determined to be a region of appoximately 35 kb (genome coordinates listed above) encompassing two genes, CHD8 and SUPT16H.

Haploinsufficiency phenotype comments:

This region was only rated a "2" because all three individuals were reported in the same publication.

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