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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC19A3 |
Ivone Leong Source NHS GMS was added to SLC19A3. Source London North GLH was added to SLC19A3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A3 |
Ellen McDonagh Added phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism); Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 for gene: SLC19A3 Publications for gene SLC19A3 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A3 |
Ellen McDonagh gene: SLC19A3 was added gene: SLC19A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 |
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