| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v1.142 | Bryony Thompson Copied STR FXN_FRDA_GAA from panel Ataxia - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.142 | FXN_FRDA_GAA |
Bryony Thompson STR: FXN_FRDA_GAA was added STR: FXN_FRDA_GAA was added to Ataxia. Sources: Expert Review Green,Expert list STR tags were added to STR: FXN_FRDA_GAA. Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: FXN_FRDA_GAA were set to 20301458 Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300 |
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| Ataxia v0.118 | FXN | Bryony Thompson Marked gene: FXN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v0.118 | FXN | Bryony Thompson Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v0.118 | FXN | Bryony Thompson Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v0.118 | FXN | Bryony Thompson Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v0.117 | FXN |
Bryony Thompson gene: FXN was added gene: FXN was added to Ataxia - paediatric. Sources: Expert list STR tags were added to gene: FXN. Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300 Review for gene: FXN was set to GREEN Added comment: Onset usually before adolescence. Most common genetic abnormality is the trinucleotide repeat expansion, but also SNVs and indels reported. Sources: Expert list |
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