| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.144 | RAPGEF2_FAME7_TTTCA |
Bryony Thompson STR: RAPGEF2_FAME7_TTTCA was added STR: RAPGEF2_FAME7_TTTCA was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for STR: RAPGEF2_FAME7_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: RAPGEF2_FAME7_TTTCA were set to 29507423; 30351492; 33791773 Phenotypes for STR: RAPGEF2_FAME7_TTTCA were set to Epilepsy, familial adult myoclonic, 7 MIM#618075 Review for STR: RAPGEF2_FAME7_TTTCA was set to AMBER Added comment: TTTCA expansion (without TTTTA expansion) identified in 3 affected individuals in a Chinese FAME family and another unrelated Japanese proband. Now 3 families reported. The expanded (TTTTA)exp(TTTCA)exp(TTTTA)n allele was identified in a single case with myoclonic epilepsy. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat. Sources: Literature |
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| Genetic Epilepsy v1.142 | SAMD12_FAME1_TTTCA | Bryony Thompson Classified STR: SAMD12_FAME1_TTTCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.142 | SAMD12_FAME1_TTTCA | Bryony Thompson Str: samd12_fame1_tttca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.141 | SAMD12_FAME1_TTTCA | Bryony Thompson FAME1 was changed to SAMD12_FAME1_TTTCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1973 | SAMD12 | Zornitza Stark Tag STR tag was added to gene: SAMD12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1171 | SAMD12 | Bryony Thompson Classified gene: SAMD12 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1171 | SAMD12 | Bryony Thompson Added comment: Comment on list classification: Added as an STR to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1171 | SAMD12 | Bryony Thompson Gene: samd12 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.659 | SAMD12 | Zornitza Stark Marked gene: SAMD12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.659 | SAMD12 | Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.659 | SAMD12 | Zornitza Stark Tag deep intronic tag was added to gene: SAMD12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.659 | SAMD12 | Zornitza Stark Classified gene: SAMD12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.659 | SAMD12 | Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.658 | SAMD12 |
Zornitza Stark gene: SAMD12 was added gene: SAMD12 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SAMD12 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SAMD12 were set to 30194086; 29507423 Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1, MIM# 601068 Mode of pathogenicity for gene: SAMD12 was set to Other Review for gene: SAMD12 was set to GREEN Added comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains. Note these were identified on long-read sequencing and may not be detectable by all assays. Sources: Literature |
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