Genes in panel
STRs in panel
Prev Next

Unexplained paediatric onset end-stage renal disease

Gene: SLC3A1

Green List (high evidence)

SLC3A1 (solute carrier family 3 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure.
Created: 11 Sep 2019, 12:26 p.m. | Last Modified: 11 Sep 2019, 12:26 p.m.
Panel Version: 0.29
Adding gene to the panel on recommendation of Genomics England clinical team
Sources: Other
Created: 11 Sep 2019, 12:25 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Cystinuria 220100

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cystinuria 220100
OMIM
104614
Clinvar variants
Variants in SLC3A1
Penetrance
None
Panels with this gene

History Filter Activity

11 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc3a1 has been classified as Green List (High Evidence).

11 Sep 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC3A1 was added gene: SLC3A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Cystinuria 220100