PBX1 PBX homeobox 1

Gene info



Previous symbol


External ID

HGNC: 8632
Entrez Gene: 5087
Ensembl: ENSG00000185630
UCSC: uc001gct.4
OMIM: 176310
UniProtKB: P40424

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Absent pulmonary valve
  • Tetralogy of fallot

Extra Cardiac Phenotype

Growth retardation , Dysmorphic facial features, Long face, Narrow face , Prominent philtrum, Low-set ears, Abnormally shaped ears, Hypoplastic ears, Anteverted ears, Crumpled ears, Abnormal ear lobes, Thickened helices, Hypoplastic helices, Hearing loss, Epicanthal folds, Strabismus , Broad nasal bridge, Anteverted nares, Thin upper lip , Respiratory insufficiency, Diaphragmatic hernia, Poor feeding , Ambiguous genitalia, Abnormal sexual development , Cryptorchidism, Micropenis , Renal hypoplasia, Renal dysplasia , Renal ectopia, Horseshoe kidney, Renal agenesis, Renal insufficiency, Renal pelvis dilatation, Hyperechogenic kidneys, Cystic dysplasia, Poor corticomedullary demarcation, Oligonephronia, Renal failure, Urinary tract abnormalities, Bifid ureter, Absent ureter, Vesicoureteral reflux , Sacral pit, Hypotonia , Developmental delay, Motor delay, Speech delay , Oligohydramnios

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mice have CHD.


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for PBX1: BED file

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Selected References

  1. Szot, J. O., Cuny, H., Blue, G. M., Humphreys, D. T., Ip, E., Harrison, K., Sholler, G. F., Giannoulatou, E., Leo, P., Duncan, E. L., Sparrow, D. B., Ho, J. W. K., Graham, R. M., Pachter, N., Chapman, G., Winlaw, D. S., & Dunwoodie, S. L. (2018). A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circulation: Genomic and Precision Medicine, 11(3). https://doi.org/10.1161/circgen.117.001978 DOI:10.1161/circgen.117.001978 PMID:29555671
  2. Slavotinek, A., Risolino, M., Losa, M., Cho, M. T., Monaghan, K. G., Schneidman-Duhovny, D., Parisotto, S., Herkert, J. C., Stegmann, A. P. A., Miller, K., Shur, N., Chui, J., Muller, E., DeBrosse, S., Szot, J. O., Chapman, G., Pachter, N. S., Winlaw, D. S., Mendelsohn, B. A., … Shieh, J. (2017). De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Human Molecular Genetics, 26(24), 4849–4860. https://doi.org/10.1093/hmg/ddx363 DOI:10.1093/hmg/ddx363 PMID:29036646
  3. Le Tanno, P., Breton, J., Bidart, M., Satre, V., Harbuz, R., Ray, P. F., Bosson, C., Dieterich, K., Jaillard, S., Odent, S., Poke, G., Beddow, R., Digilio, M. C., Novelli, A., Bernardini, L., Pisanti, M. A., Mackenroth, L., Hackmann, K., Vogel, I., … Coutton, C. (2017). PBX1haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Journal of Medical Genetics, 54(7), 502–510. https://doi.org/10.1136/jmedgenet-2016-104435 DOI:10.1136/jmedgenet-2016-104435 PMID:28270404