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| Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFA2 |
Ivone Leong Source NHS GMS was added to NDUFA2. Source London North GLH was added to NDUFA2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA2 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA2 Publications for gene NDUFA2 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA2 |
Ellen McDonagh gene: NDUFA2 was added gene: NDUFA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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