SLC22A12

solute carrier family 22 member 12
OMIM: 607096, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SLC22A12 in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.17
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Hypouricemia, renal 220150
    Green SLC22A12 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Hypouricemia, renal, 220150
    Green SLC22A12 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypouricemia, renal, 220150
    Red SLC22A12 in Acute rhabdomyolysis


    Level 2: Neurology
    Version 2.8
    Latest signed off version: v2.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Exercise induced acute kidney failure
    • Hypouricemia, renal, OMIM:220150