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| Repeat Disorders v0.263 | RAI1_FAME8_TTTCA | Bryony Thompson Marked STR: RAI1_FAME8_TTTCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.263 | RAI1_FAME8_TTTCA | Bryony Thompson Str: rai1_fame8_tttca has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.263 | RAI1_FAME8_TTTCA |
Bryony Thompson STR: RAI1_FAME8_TTTCA was added STR: RAI1_FAME8_TTTCA was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: RAI1_FAME8_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: RAI1_FAME8_TTTCA were set to 37994247 Phenotypes for STR: RAI1_FAME8_TTTCA were set to benign adult familial myoclonic epilepsy MONDO:0019448 Review for STR: RAI1_FAME8_TTTCA was set to RED Added comment: A single family from Mali segregating TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1. Consistent with other FAME expansions. RNA toxicity is suggested to be the mechanism. Loss of function is the mechanism of disease of Smith-Magenis syndrome. Sources: Literature |
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