SLC22A12

solute carrier family 22 member 12
OMIM: 607096, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SLC22A12 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypouricemia, renal, MIM# 220150, MONDO:0020728

Green SLC22A12 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypouricemia, renal, MIM# 220150, MONDO:0020728

Green SLC22A12 in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hereditary renal hypouricemia MONDO:0009071
  • Disorders of purine metabolism