SLC36A2

solute carrier family 36 member 2
OMIM: 608331, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SLC36A2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperglycinuria MIM#138500
  • Iminoglycinuria, digenic MIM#242600
  • Disorders of amino acid transport

Amber SLC36A2 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hyperglycinuria MIM#138500
    • Iminoglycinuria, digenic MIM#242600
    • Disorders of amino acid transport

    Red SLC36A2 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • iminoglycinuria MONDO:0009448

    Green SLC36A2 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Iminoglycinuria, digenic MIM#242600
    • Hyperglycinuria MIM#138500
    • Disorders of amino acid transport