ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

There are no reports of focal deletions or intragenic loss-of-function mutations. However, several patients with non-focal deletions have been reported and JARID2 is considered a candidate gene for the neurodevelopmental phenotype seen in these patients. Baroy et al (2013, PMID: 23294540) describe 5 unrelated patients with de novo deletions of 6p22.3-24.1 and suggest existence of two distinct dosage sensitive genes is this region (JARID2 and ATXN1) responsible for neurodevelopmental phenotype. JARID2, deleted in 4/5 patients, was suggested as a candidate on the basis of it's function as a histone methyltransferase gene in the Notch signalling pathway and the known association of haploinsufficiency neurodevelopmental disorders in other such genes. Furthermore RNA expression that JARID2 expression level was significantly decreased in these four patients. However, JARID2 was not included in one patient's deletion from this series. See also Di Benedetto et al. (2013, PMID: 23324214) for review of reported cases.

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