1. Genes and Genomic Entities
  2. ABCG2

ABCG2

ATP binding cassette subfamily G member 2 (Junior blood group)
OMIM: 603756, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red ABCG2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary idiopathic gout (Disorders of purine metabolism)
  • [Junior blood group system] 614490
  • [Uric acid concentration, serum, QTL1] 138900
Red ABCG2 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Primary idiopathic gout (Disorders of purine metabolism)
    • [Junior blood group system] 614490
    • [Uric acid concentration, serum, QTL1] 138900
    Red ABCG2 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Unknown
    Sources
    • NHS GMS
    Phenotypes
    • Serum uric acid concentration and susceptibility to gout, 138900