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| Repeat Disorders v0.146 | FAME6 | Zornitza Stark Tag adult-onset tag was added to STR: FAME6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.96 | FAME6 | Bryony Thompson Marked STR: FAME6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.96 | FAME6 | Bryony Thompson Str: fame6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.96 | FAME6 |
Bryony Thompson STR: FAME6 was added STR: FAME6 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME6 were set to 29507423 Phenotypes for STR: FAME6 were set to Epilepsy, familial adult myoclonic, 6 MIM#618074 Review for STR: FAME6 was set to RED Added comment: The expanded (TTTTA)22(TTTCA)exp(TTTTA)exp allele was identified 5 affected carriers in a single family. (TTTTA)18 is the reference repeats. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat. Sources: Literature |
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