| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorders v1.368 | TRMT10C | Sarah Leigh Phenotypes for gene: TRMT10C were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 30, 616974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.367 | TRMT10C | Sarah Leigh Mode of inheritance for gene: TRMT10C was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.366 | TRMT10C | Sarah Leigh Classified gene: TRMT10C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.366 | TRMT10C |
Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studies. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187). |
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| Mitochondrial disorders v1.366 | TRMT10C | Sarah Leigh Gene: trmt10c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.365 | TRMT10C | Sarah Leigh Publications for gene: TRMT10C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | TRMT10C |
Sarah Leigh Source NHS GMS was added to TRMT10C. Source Expert Review Green was added to TRMT10C. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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