ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)

Haploinsufficiency phenotype comments:

Variation in GPSM2 has been reported in individuals with Chudley-McCullough syndrome characterized by sensorineural deafness and partial agnesis of the corpus callosum and arachnoid cysts.Isolated hearing loss has also been reported. Furthermore, the overall evidence that GPSM2, when altered, causes Chudley-McCullough syndrome was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.

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