ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000018.9) (NC_000018.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
25217958 Coe et al. (2014) reviewed nine patients with presumably loss of function, several known to be de novo, mutations and deletions in patients with variable phenotype that can include expressive language delays and intellectual disabilities.
25356899 Hamdan et al. (2014) reports de novo truncating mutations in a patient with moderate non-syndromic intellectual disability. The additional clinical information from the supplemental materials indicates this is a 6.5 year old with only 2-3 word sentences, supporting the presence of expressive language delays.

Haploinsufficiency phenotype comments:

21037274 Filges et al. (2011) and 22333924 Marseglias et al. (2012) describe relatively focal de novo deletions in patients with intellectual disabilities, including significant expressive language impairment. Possible gain of function or dominant negative mutations have been associated with Schinzel-Giedion syndrome (OMIM #269150), a distinct phenotype from the phenotype associated with haploinsufficiency.

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