Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ataxia - adult onset v0.31 | FXN | Bryony Thompson Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.31 | FXN | Bryony Thompson Added comment: Comment on list classification: Both repeat and SNV can cause disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.31 | FXN | Bryony Thompson Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.30 | FXN | Bryony Thompson Tag STR tag was added to gene: FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.0 | FXN |
Bryony Thompson gene: FXN was added gene: FXN was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia with retained reflexes,229300; Friedreich ataxia, 229300; Friedreichataxia, 229300 |