ClinGen Dosage Sensitivity Curation Page
PBX1
- Curation Status: Complete
- id: ISCA-6736
- Date last evaluated: 2019-09-05
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about PBX1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/5087
- OMIM: https://omim.org/entry/176310
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.911
Select assembly:
(NC_000001.10)
(NC_000001.11)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
| 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