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| Mitochondrial disease v0.223 | SLC52A3 | Bryony Thompson Marked gene: SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.223 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.223 | SLC52A3 | Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.223 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.222 | SLC52A3 |
Bryony Thompson gene: SLC52A3 was added gene: SLC52A3 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 29053833; 29193829 Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Review for gene: SLC52A3 was set to GREEN Added comment: The phenotype of >10 cases resembles a phenotype similar to mitochondrial disorders and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects. Sources: NHS GMS |
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