Renal tubulopathies
Gene: ABCG2
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
EnsemblGeneIds (GRCh38): ENSG00000118777
EnsemblGeneIds (GRCh37): ENSG00000118777
OMIM: 603756, Gene2Phenotype
ABCG2 is in 3 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: ABCG2; Suggested initial gene rating: red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; Other Comments: Association, ?ADCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
Unknown
Phenotypes
Serum uric acid concentration and susceptibility to gout MIM 138900
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NHS GMS
- Phenotypes
-
- Serum uric acid concentration and susceptibility to gout, 138900
- OMIM
- 603756
- Clinvar variants
- Variants in ABCG2
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ABCG2 were changed from to Serum uric acid concentration and susceptibility to gout, 138900
17 Jun 2019, Gel status: 1
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: ABCG2 was changed from to Unknown
3 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ABCG2 was added gene: ABCG2 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: ABCG2 was set to