SLC22A12

solute carrier family 22 member 12
OMIM: 607096, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SLC22A12 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypouricemia, renal, MIM# 220150, MONDO:0020728

Green SLC22A12 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypouricemia, renal, MIM# 220150, MONDO:0020728

    Green SLC22A12 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