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| Mitochondrial disease v0.225 | SLC52A2 | Bryony Thompson Marked gene: SLC52A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.225 | SLC52A2 | Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.225 | SLC52A2 | Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.225 | SLC52A2 | Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.224 | SLC52A2 |
Bryony Thompson gene: SLC52A2 was added gene: SLC52A2 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 29053833; 29193829 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707 Review for gene: SLC52A2 was set to GREEN Added comment: The phenotype of at least 7 cases resembles a phenotype similar to mitochondrial disorders, electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects. Sources: NHS GMS |
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