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Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFA10 |
Ivone Leong Source NHS GMS was added to NDUFA10. Source London North GLH was added to NDUFA10. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA10 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency for gene: NDUFA10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA10 |
Ellen McDonagh gene: NDUFA10 was added gene: NDUFA10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA10 were set to 27604308 Phenotypes for gene: NDUFA10 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |