Activity
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4 actions
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| Likely inborn error of metabolism v1.76 | NDUFA9 |
Sarah Leigh Source Expert Review Green was added to NDUFA9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9 Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.47 | NDUFA9 |
Ivone Leong Source NHS GMS was added to NDUFA9. Source London North GLH was added to NDUFA9. |
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| Likely inborn error of metabolism v0.4 | NDUFA9 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: NDUFA9 Publications for gene NDUFA9 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | NDUFA9 |
Ellen McDonagh gene: NDUFA9 was added gene: NDUFA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Isolated complex I deficiency |
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