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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A19 |
Ivone Leong Source NHS GMS was added to SLC25A19. Source London North GLH was added to SLC25A19. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A19 |
Ellen McDonagh Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; Microcephaly, Amish type (Disorders of thiamine metabolism) for gene: SLC25A19 Publications for gene SLC25A19 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A19 |
Ellen McDonagh gene: SLC25A19 was added gene: SLC25A19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 |
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