ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Deletions that are associated with Stickler or other related collagenopathies are generally small and result in a dominant negative consequence to the collagen protein by disrupting the Gly-X-Y collagen sequence. Loss of function of a single copy of COL11A may only lead to early hearing loss and myopia from a single report.

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