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| Mitochondrial disorders v1.364 | TOP3A | Sarah Leigh Classified gene: TOP3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.364 | TOP3A |
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: One case reported with functional studies; Newcastle team aware of another unrelated case. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187). |
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| Mitochondrial disorders v1.364 | TOP3A | Sarah Leigh Gene: top3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | TOP3A |
Sarah Leigh Source NHS GMS was added to TOP3A. Source Expert Review Green was added to TOP3A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Mitochondrial disorders v1.109 | TOP3A |
Ellen McDonagh gene: TOP3A was added gene: TOP3A was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 29290614 Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Review for gene: TOP3A was set to RED Added comment: Currently one case reported (see publication). Sources: Expert list |
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