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| Severe Paediatric Disorders v1.174 | MT-CYB | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v1.173 | MT-CYB | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | MT-CYB | Louise Daugherty reviewed gene: MT-CYB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | MT-CYB | Louise Daugherty Publications for gene MT-CYB were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | MT-CYB | Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MT-CYB | Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MT-CYB | Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | MT-CYB | Louise Daugherty Added phenotypes EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; ENCEPHALOMYOPATHY, MITOCHONDRIAL; PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; EXERCISE INTOLERANCE; LEBER OPTIC ATROPHY; MULTISYSTEM DISORDER for gene: MT-CYB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | MT-CYB | Louise Daugherty Source Next Generation Children Project was added to MT-CYB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | MT-CYB |
Louise Daugherty Source Expert Review Green was added to MT-CYB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | MT-CYB |
Louise Daugherty gene: MT-CYB was added gene: MT-CYB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL |
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