| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v0.131 | FXTAS | Bryony Thompson Marked STR: FXTAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.131 | FXTAS | Bryony Thompson Str: fxtas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.131 | FXTAS | Bryony Thompson Classified STR: FXTAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.131 | FXTAS | Bryony Thompson Str: fxtas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.130 | FXTAS |
Bryony Thompson STR: FXTAS was added STR: FXTAS was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for STR: FXTAS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for STR: FXTAS were set to 27340021; 28176767; 20301558; 23765048; 25227148; 11445641 Phenotypes for STR: FXTAS were set to Fragile X tremor/ataxia syndrome MIM#300623 Review for STR: FXTAS was set to GREEN STR: FXTAS was marked as clinically relevant Added comment: Parkinsonism is a common feature of FXTAS, which is associated with the premutation. HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X] RNA-mediated toxicity may result in the FXTAS phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype. Intermediate (grey zone, inconclusive, borderline): ~45 to ~54 repeats Premutation - risk of FXTAS: ~55 to ~200 repeats Full mutation - fragile X syndrome (FXS): >200 repeats Sources: Literature |
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| Early-onset Parkinson disease v0.127 | FMR1 | Bryony Thompson changed review comment from: Parkinsonism can be a relatively common feature of the condition. The major cause of the condition is 5'UTR repeat expansion, but at least 6 pathogenic intragenic SNV or small indels have been reported in affected males.; to: Parkinsonism can be a relatively common feature of FXTAS, which is caused by 5'UTR repeat expansion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.127 | FMR1 | Bryony Thompson Added comment: Comment on list classification: Parkinsonism is a feature of FXTAS and is not reported in cases with intragenic variants, which have the FXS phenotype. Added as an STR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||