| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.1040 | MT-TC | Zornitza Stark Publications for gene: MT-TC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1039 | MT-TC | Zornitza Stark Phenotypes for gene: MT-TC were changed from MELAS; Dystonia to Mitochondrial disease (MONDO:0044970), MT-TC-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1038 | MT-TC | Zornitza Stark Classified gene: MT-TC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1038 | MT-TC | Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1037 | MT-TC |
Zornitza Stark edited their review of gene: MT-TC: Added comment: LIMITED by ClinGen. There were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported. The gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).; Changed rating: AMBER; Changed publications: 8829635, 9185178, 17241783, 11453453, 16955414, 32169613, 36039763, 17724295, 35252560, 34433719, 30030363; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TC-related |
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| Mitochondrial disease v0.430 | MT-TC | Zornitza Stark Tag mtDNA tag was added to gene: MT-TC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.391 | MT-TC | Zornitza Stark Marked gene: MT-TC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.391 | MT-TC | Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.391 | MT-TC | Zornitza Stark Classified gene: MT-TC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.391 | MT-TC | Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.390 | MT-TC |
Zornitza Stark gene: MT-TC was added gene: MT-TC was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL Phenotypes for gene: MT-TC were set to MELAS; Dystonia Review for gene: MT-TC was set to GREEN Added comment: Sources: Expert list |
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