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| Likely inborn error of metabolism - targeted testing not possible v4.52 | MT-CYB | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.49 | MT-CYB | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.252 | MT-CYB | Eleanor Williams Tag gene-checked tag was added to gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CYB | Ellen McDonagh Added phenotypes CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY for gene: MT-CYB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CYB |
Ellen McDonagh gene: MT-CYB was added gene: MT-CYB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL Phenotypes for gene: MT-CYB were set to CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY |
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