AMPD3:Ensemblv90

adenosine monophosphate deaminase 3
OMIM: 102772, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red AMPD3 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • [AMP deaminase deficiency, erythrocytic] MIM#612874

Red AMPD3 in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 0.8

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • adenosine monophosphate deaminase deficiency MONDO:0013028

    Red AMPD3 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • adenosine monophosphate deaminase deficiency MONDO:0013028