Groopman et al 2019 - Genes with diagnostic variantsGene: SLC3A1
From Groopman et al 2019 Table S7. Gene symbol: SLC3A1; Inheritance: AR and AD; Clinical diagnosis: Congenital or cystic renal disease; Hypertensive nephropathy; Tubulointerstitial disease; Genetic diagnosis: Cystinuria; OMIM phenotype MIM no.: 220100; Number of cases: 2 (1 compound heterozygous; 1 heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
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Source Expert Review Amber was added to SLC3A1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: SLC3A1 was added gene: SLC3A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Tubulointerstitial disease; Congenital or cystic renal disease; Hypertensive nephropathy; Cystinuria; MIM 220100