| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Auditory Neuropathy v0.26 | FXN | Bryony Thompson Marked gene: FXN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.26 | FXN | Bryony Thompson Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.26 | FXN | Bryony Thompson Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.26 | FXN | Bryony Thompson Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.25 | FXN |
Bryony Thompson gene: FXN was added gene: FXN was added to Auditory Neuropathy. Sources: Literature STR tags were added to gene: FXN. Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 18515321; 25791504 Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300 Review for gene: FXN was set to GREEN Added comment: Sensorineural hearing loss occurs in ~10% of individuals with FRDA. Auditory neuropathy has been confirmed in at least 4 individuals homozygous for the FXN repeat expansion. Pathogenic SNVs or small indels on one allele with the repeat expansion on the second allele, have been reported as the cause FRDA in ~5% of cases. Sources: Literature |
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