ClinGen Dosage Sensitivity Curation Page

PSD3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Bayram et al (2016, PMID: 26752647) identified a single missesne variant in PSD3 shown to cosegregate with disease in a multi-generational family with antecubital pterygium syndrome. Additionally, a rare paternally inherited duplication (i.e ~800 kb) that intersects/disrupts PSD3 has been reported in an isolated case of nonsyndromic ASD (reported initially in Pinto et al (2010, PMID: 20531469, also see PMID 26185613). However, the function of PSD3 is not well established, and whole gene deletions of PSD3 have not been reported.

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

Triplosensitivity phenotype comment:

No whole gene duplications of PSD3 has been described, and there is currently no evidence to support a claim of triplosensitivity of this gene.