1. Genes and Genomic Entities
  2. SLC2A9

SLC2A9

solute carrier family 2 member 9
OMIM: 606142, Gene2Phenotype

4 panels

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


Level 2: Neurology
Version 5.14
Latest signed off version: v5.4 (30 Apr 2025)

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
    Green SLC2A9 in Nephrocalcinosis or nephrolithiasis


    Level 2: Renal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Hypouricemia, renal, 2, 612076
    Green SLC2A9 in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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 2: Neurology
    Version 2.7
    Latest signed off version: v2.0 (30 Apr 2025)

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