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| Progressive Myoclonic Epilepsy v0.10 | SLC7A6OS | Zornitza Stark Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.9 | SLC7A6OS | Zornitza Stark edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.9 | SLC7A6OS | Zornitza Stark Marked gene: SLC7A6OS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.9 | SLC7A6OS | Zornitza Stark Gene: slc7a6os has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.9 | SLC7A6OS |
Zornitza Stark gene: SLC7A6OS was added gene: SLC7A6OS was added to Progressive Myoclonic Epilepsy. Sources: Literature Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A6OS were set to 33085104 Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy Review for gene: SLC7A6OS was set to RED Added comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data. Sources: Literature |
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