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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