ClinGen Dosage Sensitivity Curation Page
DNASE1
- Curation Status: Complete
- id: ISCA-33131
- Date last evaluated: 2012-02-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about DNASE1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/1773
- OMIM: https://omim.org/entry/152700
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
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.