| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1919 | ALG10 | Zornitza Stark Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1918 | ALG10 | Zornitza Stark edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1197 | ALG10 | Zornitza Stark Marked gene: ALG10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1197 | ALG10 | Zornitza Stark Gene: alg10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1197 | ALG10 |
Zornitza Stark gene: ALG10 was added gene: ALG10 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG10 were set to 33798445 Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG Review for gene: ALG10 was set to RED Added comment: Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort. Sources: Literature |
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