ClinGen Dosage Sensitivity Curation Page

SLC6A4

  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Any evidence of involvement in autism comes from association studies, although some association studies have not reproduced well and some studies have not found evidence for association of SLC6A4 and autism (For evidence refuting the association of this gene and autism, see PMIDs: 19360675, 16616719, 15882779, 10686565). SLC6A4 promoter polymorphisms have been associated with anxiety, obsessive-compulsive disorder, bipolar affective disorder, depression (with environmental stress), and other psychiatric phenotypes that are not appropriate for our purposes (see OMIM #182138 for more information).

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