SLC36A2

solute carrier family 36 member 2
OMIM: 608331, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SLC36A2 in Mendeliome


Version 2.0

2 reviews 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 2.0

1 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 2.0

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

Amber SLC36A2 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

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