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Mitochondrial disorders v2.102 | NDUFAF8 | Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.47 | NDUFAF8 | Ivone Leong Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.341 | NDUFAF8 | Sarah Leigh Classified gene: NDUFAF8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.341 | NDUFAF8 |
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: Newcastle team are aware of 3 unrelated cases and 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 v1.341 | NDUFAF8 | Sarah Leigh Gene: ndufaf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.340 | NDUFAF8 | Sarah Leigh Added comment: Comment on phenotypes: No OMIM phenotype (23/05/2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.340 | NDUFAF8 | Sarah Leigh Phenotypes for gene: NDUFAF8 were changed from to No OMIM phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.339 | NDUFAF8 | Sarah Leigh Publications for gene: NDUFAF8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.338 | NDUFAF8 | Sarah Leigh Mode of inheritance for gene: NDUFAF8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.293 | NDUFAF8 |
Sarah Leigh gene: NDUFAF8 was added gene: NDUFAF8 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NDUFAF8 was set to |