| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy - complex v0.35 | FXN | Zornitza Stark Marked gene: FXN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.35 | FXN | Zornitza Stark Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.35 | FXN | Zornitza Stark Tag STR tag was added to gene: FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.35 | FXN | Zornitza Stark Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.35 | FXN | Zornitza Stark Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.34 | FXN |
Zornitza Stark gene: FXN was added gene: FXN was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia, MIM# 229300 Mode of pathogenicity for gene: FXN was set to Other Review for gene: FXN was set to GREEN Added comment: Peripheral sensory neuropathy is part of the phenotype. Note only ~2% of cases are due to SNVs, majority due to STRs. Sources: NHS GMS |
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