| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Repeat Disorders v0.123 | FRAXE | Zornitza Stark Tag paediatric-onset tag was added to STR: FRAXE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.53 | FRAXE | Bryony Thompson Marked STR: FRAXE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.53 | FRAXE | Bryony Thompson Str: fraxe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.53 | FRAXE | Bryony Thompson Classified STR: FRAXE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.53 | FRAXE | Bryony Thompson Str: fraxe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.52 | FRAXE |
Bryony Thompson STR: FRAXE was added STR: FRAXE was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: FRAXE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: FRAXE were set to 8334699; 8673085; 11388762 Phenotypes for STR: FRAXE were set to Intellectual developmental disorder, X-linked 109 MIM#309548 Review for STR: FRAXE was set to GREEN STR: FRAXE was marked as clinically relevant Added comment: NM_001169122.1(AFF2):c.-460_-458GCC(6_25) Loss of function through methylation silencing is the mechanism of disease Normal - 5-44 repeats Inconclusive - 45-54 repeats Premutation - 55-200 repeats Abnormal - >200 or >230 repeats Sources: Expert list |
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