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Likely inborn error of metabolism - targeted testing not possible v1.47 | BOLA3 |
Ivone Leong Source NHS GMS was added to BOLA3. Source London North GLH was added to BOLA3. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BOLA3 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Multiple Mitochondrial Dysfunctions Syndrome; Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple mitochondrial dysfunctions syndrome 2, 614299; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: BOLA3 Publications for gene BOLA3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BOLA3 |
Ellen McDonagh gene: BOLA3 was added gene: BOLA3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple Mitochondrial Dysfunctions Syndrome; Multiple mitochondrial dysfunctions syndrome 2, 614299; Disorders of iron homeostasis |