ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: BARTTER SYNDROME, TYPE 3; BARTS3
Evidence for haploinsufficiency phenotype
PubMed ID Description
This gene causes a recessive condition: Bartter syndrome type 3. Heterozygous deletions in carriers are not described with pathogenic outcome.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

At the time of this review (11/16/2011), rare duplications were found in general population controls (curated in Database of Genomic Variants); no publications describing pathogenic duplications were found.