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| Repeat Disorders v0.269 | DIP2B_FRA12A_CGG | Bryony Thompson Phenotypes for STR: DIP2B_FRA12A_CGG were changed from Mental retardation, FRA12A type MIM#136630 to intellectual disability, FRA12A type MONDO:0007634 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.268 | DIP2B_FRA12A_CGG | Bryony Thompson Publications for STR: DIP2B_FRA12A_CGG were set to 17236128; 39854091; 33510257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.267 | DIP2B_FRA12A_CGG |
Bryony Thompson edited their review of STR: DIP2B_FRA12A_CGG: Added comment: Unsure about the expansions association with disease due to variable phenotypes and possible incomplete penetrance PMID 17236128, 39854091, and 41028987 report 23 unrelated families with heterozygous CGG repeat expansions in the 5′UTR of DIP2B. Sixteen families present with intellectual disability associated with the FRA12A fragile site, while seven families (including two siblings, five ataxia probands, and one dystonia case) exhibit neurodevelopmental disability with progressive movement disorders (chorea, dystonia, ataxia). Functional studies demonstrate reduced DIP2B expression via promoter hypermethylation. Segregation analysis shows segregation from unaffected parents (possibly reduced penetrance) and de novo events. DIP2B expansion OR 2.8 (p=0.04) in ataxia cohort (5/788) vs gnomAD.; Changed publications: 17236128, 33510257, 39854091, 41028987; Changed phenotypes: intellectual disability, FRA12A type MONDO:0007634 |
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| Repeat Disorders v0.257 | DIP2B_FRA12A_CGG | Bryony Thompson Publications for STR: DIP2B_FRA12A_CGG were set to 17236128 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.241 | DIP2B_FRA12A_CGG | Bryony Thompson FRA12A was changed to DIP2B_FRA12A_CGG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||