Renal Tubulopathies and related disorders

Gene: SLC7A7

Green List (high evidence)

SLC7A7 (solute carrier family 7 member 7)
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Chronic renal disease is a feature of the phenotype.
Created: 30 Jan 2020, 5:03 a.m. | Last Modified: 30 Jan 2020, 5:03 a.m.
Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysinuric protein intolerance, MIM# 222700

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC7A7 was added gene: SLC7A7 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 10080182; 18716612 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700