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| Likely inborn error of metabolism - targeted testing not possible v1.76 | SLC25A42 |
Sarah Leigh Source Expert Review Green was added to SLC25A42. Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42 Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A42 |
Ellen McDonagh gene: SLC25A42 was added gene: SLC25A42 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A42 was set to Unknown |
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