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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | SLC12A3 | Eleanor Williams reviewed gene: SLC12A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | SLC12A3 |
Eleanor Williams Source Expert Review Green was added to SLC12A3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SLC12A3 |
Eleanor Williams 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 |
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