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| Mitochondrial disorders v1.345 | NDUFB8 | Sarah Leigh Phenotypes for gene: NDUFB8 were changed from Isolated complex I deficiency; No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 32, 618252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.344 | NDUFB8 | Sarah Leigh Mode of inheritance for gene: NDUFB8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.343 | NDUFB8 | Sarah Leigh Publications for gene: NDUFB8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.342 | NDUFB8 | Sarah Leigh Classified gene: NDUFB8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.342 | NDUFB8 |
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 cases with functional studies. From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65). |
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| Mitochondrial disorders v1.342 | NDUFB8 | Sarah Leigh Gene: ndufb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | NDUFB8 |
Sarah Leigh Source NHS GMS was added to NDUFB8. Source Expert Review Green was added to NDUFB8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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