| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - adult onset v1.13 | FXN_FRDA_GAA | Bryony Thompson Marked STR: FXN_FRDA_GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.13 | FXN_FRDA_GAA | Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.13 | FXN_FRDA_GAA | Bryony Thompson Classified STR: FXN_FRDA_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.13 | FXN_FRDA_GAA | Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.12 | FXN_FRDA_GAA |
Bryony Thompson STR: FXN_FRDA_GAA was added STR: FXN_FRDA_GAA was added to Hereditary Spastic Paraplegia - adult onset. 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 Spastic Paraplegia - adult onset v0.77 | FXN | Zornitza Stark Tag SV/CNV tag was added to gene: FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.10 | FXN | Bryony Thompson Marked gene: FXN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.10 | FXN | Bryony Thompson Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.10 | FXN | Bryony Thompson Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.10 | FXN | Bryony Thompson Added comment: Comment on list classification: A trinucleotide repeat and SNV/indels are both causes of disease in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.10 | FXN | Bryony Thompson Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.9 | FXN | Bryony Thompson reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31178521, 11425956, 11843702, 26301374; Phenotypes: Friedreich ataxia MIM#229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.9 | FXN | Bryony Thompson Tag STR tag was added to gene: FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | FXN |
Bryony Thompson gene: FXN was added gene: FXN was added to Hereditary Spastic Paraplegia - 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, 229300 |
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