Nephrocalcinosis or nephrolithiasis
Gene: SLC7A9

SLC7A9 (solute carrier family 7 member 9)
EnsemblGeneIds (GRCh38): ENSG00000021488
EnsemblGeneIds (GRCh37): ENSG00000021488
OMIM: 604144, Gene2Phenotype
SLC7A9 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 from OMIM. The International Cystinuria Consortium has reported multiple different variants in this gene in cystinuria patients from different ethnicities.
Created: 20 May 2016, 9:58 a.m.

Created: 20 May 2016, 9:58 a.m.

Panel version: 0.73

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

604144

Clinvar variants

Variants in SLC7A9

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: SLC7A9 were changed from Cystinuria to Cystinuria 220100

20 May 2016, Gel status: 4