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| Mitochondrial disease v0.1058 | MT-TM | Zornitza Stark Phenotypes for gene: MT-TM were changed from mitochondrial disease (MONDO:0044970), MT-TM-related to mitochondrial disease (MONDO:0044970), MT-TM-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1058 | MT-TM | Zornitza Stark Phenotypes for gene: MT-TM were changed from mitochondrial disease (MONDO:0044970), MT-TM-related to mitochondrial disease (MONDO:0044970), MT-TM-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1057 | MT-TM | Zornitza Stark Phenotypes for gene: MT-TM were changed from Mitochondrial myopathy to mitochondrial disease (MONDO:0044970), MT-TM-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1057 | MT-TM | Zornitza Stark Publications for gene: MT-TM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1056 | MT-TM |
Zornitza Stark edited their review of gene: MT-TM: Added comment: DEFINITIVE by ClinGen. Multiple individuals reported. The condition was first described in a 10-year-old girl with exercise intolerance, myopathy, and short stature with mildly elevated serum lactate. Subsequent publications have shown a consistent phenotype involving a mitochondrial myopathy (typically childhood onset) with elevated lactate. Chronic external progressive ophthalmoplegia (CPEO) is not common but has been reported. Basal ganglia lesions and Leigh syndrome spectrum/mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) overlap have also been reported in one patient. Retinitis pigmentosa has also been reported. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red (or blue) fibers. Combined OXPHOS deficiencies in muscle are also observed.; Changed publications: 9633749, 24711008, 25468263, 30739820, 11335700, 31488384, 31022467, 29174468; Changed phenotypes: mitochondrial disease (MONDO:0044970), MT-TM-related |
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| Mitochondrial disease v0.411 | MT-TM | Zornitza Stark Marked gene: MT-TM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.411 | MT-TM | Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.411 | MT-TM | Zornitza Stark Tag mtDNA tag was added to gene: MT-TM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.411 | MT-TM | Zornitza Stark Classified gene: MT-TM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.411 | MT-TM | Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.410 | MT-TM |
Zornitza Stark gene: MT-TM was added gene: MT-TM was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL Phenotypes for gene: MT-TM were set to Mitochondrial myopathy Review for gene: MT-TM was set to GREEN Added comment: Sources: Expert list |
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