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Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFS6 |
Ivone Leong Source NHS GMS was added to NDUFS6. Source London North GLH was added to NDUFS6. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS6 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS6 Publications for gene NDUFS6 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS6 |
Ellen McDonagh gene: NDUFS6 was added gene: NDUFS6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS6 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Isolated complex I deficiency |