| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v1.141 | Bryony Thompson Copied STR FMR1_FXTAS_CGG from panel Ataxia - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.141 | FMR1_FXTAS_CGG |
Bryony Thompson STR: FMR1_FXTAS_CGG was added STR: FMR1_FXTAS_CGG was added to Ataxia. Sources: Expert Review Green,Expert list STR tags were added to STR: FMR1_FXTAS_CGG. Mode of inheritance for STR: FMR1_FXTAS_CGG 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: FMR1_FXTAS_CGG were set to 23765048; 25227148 Phenotypes for STR: FMR1_FXTAS_CGG were set to Fragile X tremor/ataxia syndrome MIM#300623 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||