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| Mitochondrial disorders v2.47 | SLC13A5 |
Andžela Lazdāne gene: SLC13A5 was added gene: SLC13A5 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to PMID: 33340416 Phenotypes for gene: SLC13A5 were set to Plasma membrane citrate transporter deficiency; Epileptic encephalopathy; Delayed psychomotor development. Penetrance for gene: SLC13A5 were set to Complete Review for gene: SLC13A5 was set to GREEN Added comment: The SLC13A5 gene encodes a tricarboxylate plasma transporter with a preference for citrate. The SLC13A5 gene should be include in Mitochondrial disorder panel because it is included in International Classification of Inborn Metabolic Disorders (ICIMD), Disorders of the Krebs cycle. Sources: Literature |
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