ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)

Haploinsufficiency phenotype comments:

Bhalla et al (2008, PMID: 19012874) reported a patient with intellectual disability and syndactyly who had a balanced translocation that disrupted CDH15, as well as KIRREL3 at the other breakpoint. Both genes are expressed in the brain and both had reduced expression. The authors then screened coding regions of CDH15 in a cohort of patients with ID and controls and identified four nonsynonymous CDH15 variants that impaired cell-cell adhesion in mouse L-cells. However, 3 missense mutation in the KIRRELL3 gene were also identified in this cohort. No whole gene deletion or duplication reported in the literature. Bhalla reports nonsynonymous sequence variants in patients with intellectual disability but haploinsufficiency has not been proven.

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