Activity
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7 actions
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| Genetic Epilepsy v0.2028 | STX1A | Zornitza Stark Publications for gene: STX1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2019 | STX1A | Belinda Chong reviewed gene: STX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37029317, 36564538; Phenotypes: Neurodevelopmental disorder MONDO#0700092, STX1A-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1587 | STX1A | Ain Roesley Marked gene: STX1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1587 | STX1A | Ain Roesley Gene: stx1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1587 | STX1A | Ain Roesley Classified gene: STX1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1587 | STX1A | Ain Roesley Gene: stx1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1586 | STX1A |
Ain Roesley gene: STX1A was added gene: STX1A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STX1A were set to neurodevelopmental disorder MONDO#0700092, STX1A-related Review for gene: STX1A was set to GREEN gene: STX1A was marked as current diagnostic Added comment: Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1 8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown) 7 unrelated since the 2 siblings share similar features: 7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria Sources: Literature |
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