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| Repeat Disorders v0.104 | FAME1_TTTGA | Bryony Thompson Marked STR: FAME1_TTTGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.104 | FAME1_TTTGA | Bryony Thompson Str: fame1_tttga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.104 | FAME1_TTTGA |
Bryony Thompson STR: FAME1_TTTGA was added STR: FAME1_TTTGA was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME1_TTTGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME1_TTTGA were set to 31483537 Phenotypes for STR: FAME1_TTTGA were set to familial cortical myoclonic tremor with epilepsy Review for STR: FAME1_TTTGA was set to RED Added comment: A single family with 2 cases and 1 asymptomatic carrier with the repeat allele (TTTTA)114-123 (TTTGA)108-116, instead of the TTTCA FAME1 repeat. Sources: Literature |
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