| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1350 | MED13L | Zornitza Stark Marked gene: MED13L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1350 | MED13L | Zornitza Stark Gene: med13l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1350 | MED13L | Zornitza Stark Classified gene: MED13L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1350 | MED13L | Zornitza Stark Gene: med13l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1322 | MED13L |
Ain Roesley gene: MED13L was added gene: MED13L was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MED13L were set to 32646507; 29511999; 25712080 Phenotypes for gene: MED13L were set to Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789 Penetrance for gene: MED13L were set to unknown Review for gene: MED13L was set to GREEN gene: MED13L was marked as current diagnostic Added comment: PMID:32646507; 8/18 individuals with missense variants reported to have epileptic seizures PMID:29511999; 1x individual with fs variant PMID: 25712080; 1x individual with nonsense variant Sources: Literature |
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