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| Likely inborn error of metabolism - targeted testing not possible v1.76 | TRMT5 |
Sarah Leigh Source Expert Review Green was added to TRMT5. Added phenotypes Combined oxidative phosphorylation deficiency 26 616539 for gene: TRMT5 Publications for gene TRMT5 were changed from PMID: 26189817 to 29021354; 26189817 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 | TRMT5 |
Ellen McDonagh gene: TRMT5 was added gene: TRMT5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to PMID: 26189817 Phenotypes for gene: TRMT5 were set to Multiple Respiratory-Chain Deficiencies |
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