SLC29A1:Ensemblv90

solute carrier family 29 member 1 (Augustine blood group)
OMIM: 602193, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SLC29A1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Equilibrative nucleoside transporter 1 deficiency MONDO:0019052

Red SLC29A1 in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 0.8

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Disorders of ectonucleotide and nucleic acid metabolism
    • Equilibrative nucleoside transporter 1 deficiency MONDO:0019052

    Red SLC29A1 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Disorders of ectonucleotide and nucleic acid metabolism
    • Equilibrative nucleoside transporter 1 deficiency MONDO:0019052