ClinGen Dosage Sensitivity Curation Page

DLX1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Possible association between DLX1 and autism. There is one association study (Liu et al., 2009) linking 3 SNPs in or around the DLX1 gene to autism. However, they were not replicated even within this study PMID: 18728693

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