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| Likely inborn error of metabolism - targeted testing not possible v4.52 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.49 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.250 | MT-ND6 | Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND6 | Ellen McDonagh Added phenotypes LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND6 |
Ellen McDonagh gene: MT-ND6 was added gene: MT-ND6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
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