SLC2A9

solute carrier family 2 member 9
OMIM: 606142, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SLC2A9 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypouricaemia, renal, 2, MIM# 612076

Green SLC2A9 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Tubulopathies v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypouricaemia, renal, 2, MIM# 612076

    Green SLC2A9 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • hereditary renal hypouricemia MONDO:0009071
    • Disorders of purine metabolism