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Unexplained young onset end-stage renal disease v0.2 SLC19A3 Eleanor Williams reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 SLC19A3 Eleanor Williams gene: SLC19A3 was added
gene: SLC19A3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC19A3 was set to Unknown
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive; (originally on the Imerslund-Grasbeck syndrome gene panel)