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| Genetic Epilepsy v1.140 | MARCH6_FAME3_TTTCA | Bryony Thompson Marked STR: MARCH6_FAME3_TTTCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.140 | MARCH6_FAME3_TTTCA | Bryony Thompson Str: march6_fame3_tttca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.140 | MARCH6_FAME3_TTTCA | Bryony Thompson Classified STR: MARCH6_FAME3_TTTCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.140 | MARCH6_FAME3_TTTCA | Bryony Thompson Str: march6_fame3_tttca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.139 | MARCH6_FAME3_TTTCA |
Bryony Thompson STR: MARCH6_FAME3_TTTCA was added STR: MARCH6_FAME3_TTTCA was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for STR: MARCH6_FAME3_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: MARCH6_FAME3_TTTCA were set to 31664039 Phenotypes for STR: MARCH6_FAME3_TTTCA were set to Epilepsy, familial adult myoclonic, 3 MIM#613608 Review for STR: MARCH6_FAME3_TTTCA was set to GREEN STR: MARCH6_FAME3_TTTCA was marked as clinically relevant STR: MARCH6_FAME3_TTTCA was marked as current diagnostic Added comment: 4 unrelated European families with a heterozygous TTTCA(n) repeat expansion in intron 1 of the MARCHF6 gene. (TTTTA)n repeat is a polymorphic microsatellite with the number of TTTTA repeats ranging from 9 to 20; repeats containing TTTCA motifs were never observed in controls, indicating that the TTTCA repeats are the pathogenic part of the expansion similar to other FAMEs. Patient cells did not show any difference in MARCHF6 RNA or protein expression compared to controls, and there was no difference in the level of intron 1-containing RNA, thus excluding a massive accumulation of abnormally spliced mRNA carrying the expansion in these cells. Sources: Literature |
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