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| Likely inborn error of metabolism - targeted testing not possible v1.47 | AIFM1 |
Ivone Leong Source NHS GMS was added to AIFM1. Source London North GLH was added to AIFM1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | AIFM1 |
Ellen McDonagh Added phenotypes Disorders of mitochondrial apoptosis; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 for gene: AIFM1 Publications for gene AIFM1 were changed from PMID: 20362274 (two related males); PMID: 23217327 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | AIFM1 |
Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327 Phenotypes for gene: AIFM1 were set to Disorders of mitochondrial apoptosis; Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 |
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