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| Mitochondrial disorders v1.355 | SDHAF1 | Sarah Leigh Publications for gene: SDHAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.354 | SDHAF1 | Sarah Leigh Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, 252011 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.353 | SDHAF1 | Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex II deficiency, 252011 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.353 | SDHAF1 | Sarah Leigh Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.352 | SDHAF1 | Sarah Leigh Classified gene: SDHAF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.352 | SDHAF1 |
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: Multiple unrelated cases with functional studies. From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex II deficiency (Version 0.16). |
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| Mitochondrial disorders v1.352 | SDHAF1 | Sarah Leigh Gene: sdhaf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | SDHAF1 |
Sarah Leigh Source NHS GMS was added to SDHAF1. Source Expert Review Green was added to SDHAF1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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