| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.207 | MTHFR | Bryony Thompson Marked gene: MTHFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.207 | MTHFR | Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.207 | MTHFR | Bryony Thompson Classified gene: MTHFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.207 | MTHFR | Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.206 | MTHFR |
Bryony Thompson gene: MTHFR was added gene: MTHFR was added to Ataxia. Sources: Literature Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 37148062; 35018185; 26025547 Phenotypes for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency, MONDO:0009353 Review for gene: MTHFR was set to GREEN Added comment: Biallelic loss‑of‑function MTHFR variants can present with early‑onset neurocognitive impairment, seizures and later‑onset ataxia Sources: Literature |
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