WBP11

WW domain binding protein 11
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green WBP11 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227
    • malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems

    Green WBP11 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227

    Green WBP11 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227
    • malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems

    Green WBP11 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, #MIM:619227