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| Early onset or syndromic epilepsy v2.307 | SLC7A6OS | Sarah Leigh Added comment: Comment on phenotypes: Based on the phenotypic spectrum reported in PMID 33085104, this gene may be suitable for additional panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.307 | SLC7A6OS | Sarah Leigh Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12 OMIM:619191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.306 | SLC7A6OS | Sarah Leigh changed review comment from: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two familes, shown to share common ancestors by haplotype analysis (PMID 33085104).; to: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two families, shown to share common ancestors by haplotype analysis (PMID 33085104). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.300 | SLC7A6OS | Sarah Leigh Classified gene: SLC7A6OS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.300 | SLC7A6OS | Sarah Leigh Added comment: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two familes, shown to share common ancestors by haplotype analysis (PMID 33085104). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.300 | SLC7A6OS | Sarah Leigh Gene: slc7a6os has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.299 | SLC7A6OS | Sarah Leigh Publications for gene: SLC7A6OS were set to 33085104 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.298 | SLC7A6OS | Sarah Leigh Tag founder-effect tag was added to gene: SLC7A6OS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.298 | SLC7A6OS |
Zornitza Stark gene: SLC7A6OS was added gene: SLC7A6OS was added to Genetic epilepsy syndromes. 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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