Groopman et al 2019 - Genes with diagnostic variantsGene: SLC12A3
From Groopman et al 2019 Table S7. Gene symbol: SLC12A3; Inheritance: AR; Clinical diagnosis: Glomerulopathy; Tubulointerstitial disease; Genetic diagnosis: Gitelman syndrome; OMIM phenotype MIM no.:263800; Number of cases: 3 (all compound 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 Green was added to SLC12A3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SLC12A3 was added gene: SLC12A3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A3 were set to Tubulointerstitial disease; MIM 263800; Glomerulopathy; Gitelman syndrome