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| Mitochondrial disease v0.1060 | MT-TP | Zornitza Stark Phenotypes for gene: MT-TP were changed from MERRF; myopathy to Mitochondrial disease (MONDO:0044970), MT-TP-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1059 | MT-TP | Zornitza Stark Publications for gene: MT-TP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1058 | MT-TP |
Zornitza Stark edited their review of gene: MT-TP: Added comment: DEFINITIVE by ClinGen. At least 9 individuals reported. Age of onset of affected individual is variable. Clinical features reported include myopathy, chronic progressive external ophthalmoplegia (CPEO), retinal dystrophy, and lactic acidosis. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red fibers. Respiratory chain enzyme deficiencies may also be observed in muscle biopsies. The pathogenic variants were present at high levels of heteroplasmy in muscle tissue and, frequently, other tissues such as blood, saliva, buccal samples, urine, and fibroblasts harbored the variant at substantially lower heteroplasmy levels, including being undetectable. Affected individuals have been reported with heteroplasmy levels as low as 25-40% in muscle tissue. Single fiber studies were performed in several probands further supporting variant pathogenicity.; Changed publications: 7689388, 11196116, 19223931, 23696415, 19273760, 27536729, 27816331, 32305257, 32419253; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TP-related |
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| Mitochondrial disease v0.415 | MT-TP | Zornitza Stark Marked gene: MT-TP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.415 | MT-TP | Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.415 | MT-TP | Zornitza Stark Tag mtDNA tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.415 | MT-TP | Zornitza Stark Classified gene: MT-TP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.415 | MT-TP | Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.414 | MT-TP |
Zornitza Stark gene: MT-TP was added gene: MT-TP was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL Phenotypes for gene: MT-TP were set to MERRF; myopathy Review for gene: MT-TP was set to GREEN Added comment: Sources: Expert list |
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