ClinGen Dosage Sensitivity Curation Page

CADPS2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID 21626674: A 2011 report of a 5.4Mb deletion encompassing ~20 genes including CADPS2 in a patient with autism spectrum disorder (ASD) and persistent hyperplastic primary vitreous. Haploinsufficiency for CADPS2 is hypothesized to contribute to ASD in this patient, however deletions of CADPS2 alone have not been reported in patient populations

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