SLC36A2

solute carrier family 36 member 2
OMIM: 608331, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SLC36A2 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
    Red SLC36A2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Hyperglycinuria 138500 AD
    • Iminoglycinuria, digenic 242600 AR
    • Hyperglycinuria 138500
    • Iminoglycinuria, digenic 242600
    Tags
    • monogenic-polygenic
    Red SLC36A2 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Iminoglycinuria, digenic 242600
    • Hyperglycinuria 138500
    • Hyperglycinuria AR