| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy - complex v1.25 | FXN_FRDA_GAA | Bryony Thompson Marked STR: FXN_FRDA_GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.25 | FXN_FRDA_GAA | Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.25 | FXN_FRDA_GAA | Bryony Thompson Classified STR: FXN_FRDA_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.25 | FXN_FRDA_GAA | Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.24 | FXN_FRDA_GAA |
Bryony Thompson STR: FXN_FRDA_GAA was added STR: FXN_FRDA_GAA was added to Hereditary Neuropathy - complex. Sources: Expert list 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; 8596916 Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300 Review for STR: FXN_FRDA_GAA was set to GREEN STR: FXN_FRDA_GAA was marked as clinically relevant STR: FXN_FRDA_GAA was marked as current diagnostic Added comment: NM_000144.4:c.165+1340GAA[X] Loss of function is the mechanism of disease Normal: 5-33 repeats Mutable normal (premutation): 34-65 repeats Borderline: 44-66 repeats Full-penetrance: ≥66 repeats Sources: Expert list |
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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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