ClinGen Dosage Sensitivity Curation Page

DLGAP2

  • 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:

Ozgen (2009), PMID: 19793310 - Report of a girl with autism spectrum disorder who had a 6.9 Mb deletion that included DLGAP2 and also a 14.1 Mb duplication from 8p21.2p23.1. Pinto (2010), PMID: 20531469 - This is an autism case-control study (996 cases) that found one child with non-syndromic autism who had a 817 kb de novo duplication that partially overlapped the 5' end of DLGAP2 and could potentially interfere with gene function. No functional studies are provided and the duplication was also found in one control patient.

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