SOX17

SRY-box 17
OMIM: 610928, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red SOX17 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.117

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
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vesicoureteral reflux 3
    • OMIM #613674

    Green SOX17 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vesicoureteral reflux 3 MIM#613674
    • Pulmonary arterial hypertension, MONDO:0015924

    Green SOX17 in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.39

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related

    Red SOX17 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Vesicoureteral reflux 3 MIM#613674
    • Pulmonary arterial hypertension