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| Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFS4 |
Ivone Leong Source NHS GMS was added to NDUFS4. Source London North GLH was added to NDUFS4. |
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| Likely inborn error of metabolism - targeted testing not possible v1.38 | NDUFS4 | Eleanor Williams Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency to Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS4 |
Ellen McDonagh Added phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; 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: NDUFS4 Publications for gene NDUFS4 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS4 |
Ellen McDonagh gene: NDUFS4 was added gene: NDUFS4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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