ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000019.9) (NC_000019.10)

Haploinsufficiency phenotype comments:

Whole gene deletions, as well as intragenic mutations of RPS19, are known to cause Diamond-Blackfan anemia by a pathogenic mechanism of haploinsufficiency. See GeneReviews for relevant primary literature and review.

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