ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 3
  • Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
29036646 Slavotinek et al. (2017): Discussion of 8 patients with de novo, deleterious mutations in PBX1 (5 missense mutations which appeared to alter protein function as well as truncating mutations), all but one patient had developmental delay, and a variety of other abnormalities including genital, renal, cardiac/pulmonary, and craniofacial.
28566479 Heidet et al. (2017): in a study of patients with congenital anomalies of the kidney/urinary tract, they found 5 instances of LOF, de novo mutations/deletions within PBX1
28270404 Le Tanno et al. (2017): study of 8 patients with 1q23.3q24.1 deletions, minimal common region was 276 kb overlapping only the PBX1 gene, all patients with bilateral renal hypoplasia, other common features were developmental delay and ear malformations

Haploinsufficiency phenotype comments:

Multiple de novo mutations, including deletions and other loss-of-function mutations, in PBX1 have been associated with a variable phenotype, including developmental delay, intellectual disability, renal and cardiac malformations, and other features.

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

Triplosensitivity phenotype comment:

No evidence available