| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v2.0 | MT-TN | Gene migrated from ENSG00000210135 to ENSG00000210135 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.25 | MT-TN | Zornitza Stark Phenotypes for gene: MT-TN were changed from mitochondrial disease MONDO:0044970, MT-TN related to mitochondrial disease MONDO:0044970, MT-TN related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.25 | MT-TN | Zornitza Stark Phenotypes for gene: MT-TN were changed from Mitochondrial myopathy to mitochondrial disease MONDO:0044970, MT-TN related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.24 | MT-TN | Zornitza Stark edited their review of gene: MT-TN: Changed phenotypes: mitochondrial disease MONDO:0044970, MT-TN related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.24 | MT-TN |
Zornitza Stark commented on gene: MT-TN: DEFINITIVE by ClinGen. A variant in MT-TN first reported in a 27 yo woman with a history of PEO since 9 months of age, myopathy, decreased deep tendon reflexes, and thin body habitus. Subsequent publications have shown a consistent phenotype including ptosis, PEO, myopathy, neuropathy, with or without ataxia, muscle biopsy with COX-negative and ragged red fibers, and often either a complex IV deficiency in muscle or combined OXPHOS defect. One patient has been reported with basal ganglia calcifications and seizures in addition to myopathy and faltering growth (PMID:16908752). Two patients have been reported with focal segmental glomerular sclerosis (FSGS), which is a renal manifestation of some primary mitochondrial diseases (PMIDs: 16908752, 23375258). |
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| Mitochondrial disease v0.413 | MT-TN | Zornitza Stark Marked gene: MT-TN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.413 | MT-TN | Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.413 | MT-TN | Zornitza Stark Classified gene: MT-TN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.413 | MT-TN | Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.412 | MT-TN |
Zornitza Stark gene: MT-TN was added gene: MT-TN was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL Phenotypes for gene: MT-TN were set to Mitochondrial myopathy Review for gene: MT-TN was set to GREEN Added comment: Sources: Expert list |
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