WBP11 WW domain binding protein 11

Gene info

Synonyms

splicing factor, PQBP1 and PP1 interacting|protein phosphatase 1, regulatory subunit 165

Previous symbol

None

External ID

HGNC: 16461
Entrez Gene: 51729
Ensembl: ENSG00000084463
UCSC: uc001rci.4
OMIM: 618083
UniProtKB: Q9Y2W2

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent foramen ovale
  • Patent ductus arteriosus
  • Total anomalous pulmonary venous return
  • Vascular ring
  • Abnormal subclavian artery morphology
  • Hypoplastic left ventricle
  • Single atrium with anomalous pulmonary venous drainage
  • Bicuspid aortic valve
  • Interrupted aortic arch

Extra Cardiac Phenotype

Vertebral, tracheo-esophageal, renal and limb defects

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1891823

Variant info

Clinvar

WBP11

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Martin, E. M. M. A., Enriquez, A., Sparrow, D. B., Humphreys, D. T., McInerney-Leo, A. M., Leo, P. J., Duncan, E. L., Iyer, K. R., Greasby, J. A., Ip, E., Giannoulatou, E., Sheng, D., Wohler, E., Dimartino, C., Amiel, J., Capri, Y., Lehalle, D., Mory, A., Wilnai, Y., et al. (2020). Heterozygous loss of <i>WBP11</i> function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29(22), 3662–3678. https://doi.org/10.1093/hmg/ddaa258 DOI:10.1093/hmg/ddaa258 PMID:33276377