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Undiagnosed metabolic disorders

Gene: ABCG2

Red List (low evidence)

ABCG2 (ATP binding cassette subfamily G member 2 (Junior blood group))
EnsemblGeneIds (GRCh38): ENSG00000118777
EnsemblGeneIds (GRCh37): ENSG00000118777
OMIM: 603756, Gene2Phenotype
ABCG2 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

From PMID 27288985: middle-aged man with severe chronic tophaceous gout with a poor response to allopurinol and requiring repeated surgical intervention. We identified the causal mutations in the HPRT1 gene, variant c.481G>T (p.A161S), and in the crucial urate transporter ABCG2, a heterozygous variant c.421C>A (p.Q141K).
Created: 25 Apr 2017, 1:11 p.m.
Non-pathogenic phenotype
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance

severe chronic tophaceous gout



Mode of Inheritance
  • Expert Review Red
  • Literature
  • Primary idiopathic gout (Disorders of purine metabolism)
  • [Junior blood group system] 614490
  • [Uric acid concentration, serum, QTL1] 138900
Clinvar variants
Variants in ABCG2
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ABCG2 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene ABCG2 was set to Unknown

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ABCG2 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

ABCG2 was created by sleigh