| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.205 | APTX | Zornitza Stark Marked gene: APTX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.205 | APTX | Zornitza Stark Gene: aptx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.90 | APTX | Bryony Thompson Classified gene: APTX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.90 | APTX | Bryony Thompson Gene: aptx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.89 | APTX |
Bryony Thompson gene: APTX was added gene: APTX was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 30986824; 26256098 Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Review for gene: APTX was set to GREEN Added comment: APTX deficiency impairs mitochondrial function, demonstrated in multiple publications and experiments. This is a well-established ataxia gene. Sources: Expert list |
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