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Inborn errors of metabolism

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
Unknown

Phenotypes
severe chronic tophaceous gout

Publications

Details

Mode of Inheritance
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
OMIM
603756
Clinvar variants
Variants in ABCG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ABCG2. Source London North GLH was added to ABCG2.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ABCG2 was added gene: ABCG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ABCG2 was set to Unknown Publications for gene: ABCG2 were set to 27604308 Phenotypes for gene: ABCG2 were set to Primary idiopathic gout (Disorders of purine metabolism); [Junior blood group system] 614490; [Uric acid concentration, serum, QTL1] 138900