SLC22A12

solute carrier family 22 member 12
OMIM: 607096, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SLC22A12 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Hypouricemia, renal 220150
    Red SLC22A12 in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Hypouricemia, renal
    Green SLC22A12 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Hypouricemia, renal, 220150
    Green SLC22A12 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypouricemia, renal, 220150
    Green SLC22A12 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypouricemia, renal, 220150
    Red SLC22A12 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Exercise induced acute kidney failure
    • Hypouricemia, renal, OMIM:220150