| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.213 | SURF1 | Bryony Thompson Marked gene: SURF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.213 | SURF1 | Bryony Thompson Gene: surf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.213 | SURF1 | Bryony Thompson Classified gene: SURF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.213 | SURF1 | Bryony Thompson Gene: surf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.212 | SURF1 |
Bryony Thompson gene: SURF1 was added gene: SURF1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SURF1 were set to 39066889; 33042241; 27146152; 26443249; 9837813 Phenotypes for gene: SURF1 were set to Leigh syndrome, MONDO:0009723 Review for gene: SURF1 was set to GREEN Added comment: SURF1 encodes a cytochrome c oxidase assembly factor; biallelic loss-of-function variants cause Leigh syndrome, a mitochondrial disease where ataxia is a core feature. Sources: Literature |
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