| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.238 | DHDDS | Zornitza Stark Marked gene: DHDDS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.238 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.238 | DHDDS | Zornitza Stark Classified gene: DHDDS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.238 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.237 | DHDDS |
Zornitza Stark gene: DHDDS was added gene: DHDDS was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHDDS were set to 29100083; 27343064 Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, MIM#613861 Review for gene: DHDDS was set to GREEN gene: DHDDS was marked as current diagnostic Added comment: Five unrelated individuals with mono-allelic variants and a neurodevelopmental phenotype including seizures; one family with compound het variants and CDG phenotype, seizures a prominent feature of the clinical phenotype. Sources: Expert list |
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