ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
21792059 Sahoo et al. 2011- evaluation of individuals with copy number variants, identified by microarray testing, overlapping known schizophrenia susceptibility loci. Found five instances of partial DLG2 deletions in individuals with varying indications, three had delays.
25055870 Georgieva et al. 2014 - microarray study of 368 individuals with bipolar disorder, found a de novo partial deletion of DLG2 in a patient with bipolar disorder.
18511947 Xu et al. 2008 - SNP array done on patients with the only case of schizophrenia in their close family members, found a de novo 269kb partial deletion of DLG2.

Haploinsufficiency phenotype comments:

Partial deletions in DLG2 have been identified in individuals with neurodevelopmental disorders, specifically schizophrenia and other psychiatric illness as well as patients with intellectual disability, autism spectrum disorders and dysmorphic features. However the deletions have also been inherited from unaffected parents in many cases which could suggest incomplete penetrance. In addition, they are commonly observed in control populations and no whole gene deletions or other loss of function mutations have been reported. Therefore the clinical impact of these partial deletions remains uncertain.

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

Triplosensitivity phenotype comment:

no evidence of triplosensitivity