Renal Tubulopathies and related disorders
Gene: SLC3A1

SLC3A1 (solute carrier family 3 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
Created: 2 Dec 2022, 12:33 a.m. | Last Modified: 2 Dec 2022, 12:33 a.m.

Panel Version: 0.17

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cystinuria, MIM# 220100

Publications

PMID: 25964309

Created: 2 Dec 2022, 12:33 a.m.
Last Modified: 2 Dec 2022, 12:33 a.m.
Panel version: 0.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cystinuria, MIM# 220100

OMIM

104614

Clinvar variants

Variants in SLC3A1

Penetrance

None

Publications

25964309

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: SLC3A1 was added gene: SLC3A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC3A1 were set to 25964309 Phenotypes for gene: SLC3A1 were set to Cystinuria, MIM# 220100

Renal Tubulopathies and related disorders Gene: SLC3A1