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| Repeat Disorders v0.146 | FRA11A | Zornitza Stark Tag paediatric-onset tag was added to STR: FRA11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.139 | FRA11A | Bryony Thompson Marked STR: FRA11A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.139 | FRA11A | Bryony Thompson Str: fra11a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.139 | FRA11A |
Bryony Thompson STR: FRA11A was added STR: FRA11A was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FRA11A was set to Unknown Publications for STR: FRA11A were set to 18160775; 453198 Phenotypes for STR: FRA11A were set to Intellectual disability Review for STR: FRA11A was set to RED Added comment: Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes expression of the folate-sensitive fragile site FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. The expansion was identified in the 15-year-old proband with intellectual disability as well as in phenotypically normal members of the family. Sources: Literature |
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