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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ACAD9 |
Ivone Leong Source NHS GMS was added to ACAD9. Source London North GLH was added to ACAD9. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD9 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9 Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD9 |
Ellen McDonagh gene: ACAD9 was added gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to PMID:17564966; 21057504 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency |
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