Renal Tubulopathies and related disorders
Gene: SLC7A7

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

Created: 30 Jan 2020, 5:03 a.m.
Last Modified: 30 Jan 2020, 5:03 a.m.
Panel version: Imported from Metabolic renal disease panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_MetabolicRenal v38.1.0
Expert Review Green
KidGen_MetabolicRenal v38.1.0

Phenotypes

Lysinuric protein intolerance, MIM# 222700

OMIM

603593

Clinvar variants

Variants in SLC7A7

Penetrance

None

Publications

Panels with this gene

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

Renal Tubulopathies and related disorders Gene: SLC7A7