| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorders v1.297 | ATP5D | Sarah Leigh Classified gene: ATP5D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.297 | ATP5D | Sarah Leigh Added comment: Comment on list classification: This gene was promoted from Amber to 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 children and functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.297 | ATP5D | Sarah Leigh Gene: atp5d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.296 | ATP5D | Sarah Leigh commented on gene: ATP5D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.296 | ATP5D | Sarah Leigh Tag new-gene-name tag was added to gene: ATP5D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.296 | ATP5D | Sarah Leigh Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, 618120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.295 | ATP5D | Sarah Leigh Publications for gene: ATP5D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.294 | ATP5D | Sarah Leigh Mode of inheritance for gene: ATP5D was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | ATP5D |
Sarah Leigh gene: ATP5D was added gene: ATP5D was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ATP5D was set to |
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