PanelApp (stage)
  1. Genes and Genomic Entities
  2. APRT

APRT

adenine phosphoribosyltransferase
OMIM: 102600, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green APRT in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenine phosphoribosyltransferase deficiency MIM#614723
Tags
  • treatable

Green APRT in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM# 614723

Red APRT in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM# 614723
Tags
  • treatable

Green APRT 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Adenine phosphoribosyltransferase deficiency, MIM#614723

    Green APRT in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • adenine phosphoribosyltransferase deficiency MONDO:0013869
    • Disorders of purine metabolism