SLC2A9

solute carrier family 2 member 9
OMIM: 606142, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SLC2A9 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Hypouricemia, renal, 2 612076
    • {Uric acid concentration, serum, QTL 2} 612076
    Red SLC2A9 in Other rare neuromuscular disorders


    Version 19.199
    Latest signed off version: v19.1 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Hypouricemia, renal, 2
    Green SLC2A9 in Nephrocalcinosis or nephrolithiasis

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.13
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Hypouricemia, renal, 2, 612076
    Green SLC2A9 in Unexplained young onset end-stage renal disease


    Version 3.38
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • {Uric acid concentration, serum, QTL 2}, 612076
    • Hypouricemia, renal, 2, 612076
    Green SLC2A9 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypouricemia, renal, 2, 612076
    • {Uric acid concentration, serum, QTL 2}, 612076
    Red SLC2A9 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Hypouricemia, renal, 2, OMIM:612076
    • Exercise induced kidney injury