| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.201 | SLC52A3 | Bryony Thompson Marked gene: SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.201 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.201 | SLC52A3 | Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.201 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.200 | SLC52A3 |
Bryony Thompson gene: SLC52A3 was added gene: SLC52A3 was added to Ataxia. Sources: Literature Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 29193829; 29053833; 28856173; 28543375; 26973221 Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-van Laere syndrome 1, MONDO:0024537 Review for gene: SLC52A3 was set to GREEN Added comment: ~15% of cases with biallelic SLC52A3 variants causing Brown‑Vialetto‑van Laere syndrome 1, a recessive riboflavin transporter deficiency, have ataxia. Functional studies included a Drosophila drift knock‑down model rescued by a riboflavin ester. Sources: Literature |
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