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| Polymicrogyria and Schizencephaly v0.92 | SCN3A | Zornitza Stark Publications for gene: SCN3A were set to 30146301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.91 | SCN3A | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.91 | SCN3A | Zornitza Stark edited their review of gene: SCN3A: Added comment: Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017; Changed rating: GREEN; Changed publications: 32515017, 30146301; Changed phenotypes: Polymicrogyria, malformations of cortical development, epilepsy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.91 | SCN3A | Zornitza Stark Marked gene: SCN3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.91 | SCN3A | Zornitza Stark Added comment: Comment when marking as ready: Six unrelated families reported, some multiplex. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.91 | SCN3A | Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.91 | SCN3A | Zornitza Stark Classified gene: SCN3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.91 | SCN3A | Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.90 | SCN3A | Chloe Stutterd edited their review of gene: SCN3A: Changed publications: 30146301, 29740860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.90 | SCN3A |
Chloe Stutterd gene: SCN3A was added gene: SCN3A was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN3A were set to 30146301 Phenotypes for gene: SCN3A were set to Polymicrogyria; epileptic encephalopathy Review for gene: SCN3A was set to GREEN gene: SCN3A was marked as current diagnostic Added comment: Sources: Literature |
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