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| Likely inborn error of metabolism - targeted testing not possible v4.52 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.49 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.252 | MT-CO1 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO1 | Ellen McDonagh Added phenotypes CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO1 |
Ellen McDonagh gene: MT-CO1 was added gene: MT-CO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Phenotypes for gene: MT-CO1 were set to CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY |
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