Nephrocalcinosis or nephrolithiasis
Gene: SLC3A1

SLC3A1 (solute carrier family 3 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 4 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

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

Phenotypes
Cystinuria

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review, and evidence in OMIM of multiple Cystinuria cases/families with variants in this gene.
Created: 20 May 2016, 9:52 a.m.

Created: 20 May 2016, 9:52 a.m.

Panel version: 0.71

Details

Mode of Inheritance

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

Sources

Expert Review Green
Eligibility statement prior genetic testing
Expert

Phenotypes

Cystinuria 220100

OMIM

104614

Clinvar variants

Variants in SLC3A1

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Oct 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLC3A1 were changed from Cystinuria to Cystinuria 220100

20 May 2016, Gel status: 4