WBP11 WW domain binding protein 11

Gene info

Synonyms

NPWBP, SIPP1, PPP1R165

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

MGI: Homozygous null mice are embryonic lethal

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

No variant passing our criteria was found for WBP11.

Selected References

None