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| Mitochondrial disease v0.305 | NDUFAF7 | Bryony Thompson Marked gene: NDUFAF7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.305 | NDUFAF7 | Bryony Thompson Gene: ndufaf7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.305 | NDUFAF7 |
Bryony Thompson gene: NDUFAF7 was added gene: NDUFAF7 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: NDUFAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NDUFAF7 were set to 28837730 Phenotypes for gene: NDUFAF7 were set to Pathologic myopia Review for gene: NDUFAF7 was set to RED Added comment: Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence. Sources: NHS GMS |
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