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| Likely inborn error of metabolism - targeted testing not possible v4.16 | NDUFA6 | Arina Puzriakova Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, 618253; No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | NDUFA6 |
Sarah Leigh Source Expert Review Green was added to NDUFA6. Mode of inheritance for gene NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6 Publications for gene NDUFA6 were changed from to 30245030 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA6 |
Ellen McDonagh gene: NDUFA6 was added gene: NDUFA6 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA6 was set to Unknown Phenotypes for gene: NDUFA6 were set to No OMIM phenotype; Isolated complex I deficiency |
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