| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.117 | DDX39B | Zornitza Stark Marked gene: DDX39B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.117 | DDX39B | Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.117 | DDX39B | Zornitza Stark Classified gene: DDX39B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.117 | DDX39B | Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.113 | DDX39B |
Sangavi Sivagnanasundram gene: DDX39B was added gene: DDX39B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX39B were set to 39918047 Phenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related Review for gene: DDX39B was set to GREEN Added comment: Established gene-disease association - epilepsy is a prominent feature in affected individuals. 6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy. 4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1. In vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype. Sources: Literature |
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