ClinGen Dosage Sensitivity Curation Page

DNASE1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

No focal deletions involving DNASE1 have been described and thus 'haploinsufficiency status' is unknown. The authors characterize several patients with Rubinstein-Taybi syndrome (RSTS) who had a chromosomal microdeletion including the CREBBP gene. The patients with severe RSTS all had deletions comprising telomeric neighbor genes of CREBBP, including DNASE1, a dominant gene encoding a nuclease that has been associated with systemic lupus erythematodes (PMID:19360410)

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

Triplosensitivity phenotype comment:

No Literature Identified.