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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PDHA1 |
Ivone Leong Source NHS GMS was added to PDHA1. Source London North GLH was added to PDHA1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHA1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-alpha deficiency, 312170; Leigh syndrome, X-linked, 308930 for gene: PDHA1 Publications for gene PDHA1 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHA1 |
Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to Leigh syndrome, X-linked, 308930; Pyruvate dehydrogenase E1-alpha deficiency, 312170 |
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