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Unexplained paediatric onset end-stage renal disease

Gene: SLC22A12

Green List (high evidence)

SLC22A12 (solute carrier family 22 member 12)
EnsemblGeneIds (GRCh38): ENSG00000197891
EnsemblGeneIds (GRCh37): ENSG00000197891
OMIM: 607096, Gene2Phenotype
SLC22A12 is in 5 panels

2 reviews

Moin Saleem (University of Bristol)

Green List (high evidence)

Include on the Unexplained paediatric onset end-stage renal disease panel. Review from Moin Saleem and Caroline Platt, University of Bristol.
Created: 25 Sep 2019, 10:58 a.m. | Last Modified: 25 Sep 2019, 10:58 a.m.
Panel Version: 0.42

Eleanor Williams (Genomics England Curator)

I don't know

Green on the Renal tubulopathies panel.
Created: 25 Sep 2019, 10:56 a.m. | Last Modified: 25 Sep 2019, 10:56 a.m.
Panel Version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypouricemia, renal, 220150
OMIM
607096
Clinvar variants
Variants in SLC22A12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: SLC22A12 was added gene: SLC22A12 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A12 were set to 18492088 Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal, 220150