| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2620 | SRD5A3 | Zornitza Stark Marked gene: SRD5A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2620 | SRD5A3 | Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2620 | SRD5A3 | Zornitza Stark Classified gene: SRD5A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2620 | SRD5A3 | Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2619 | SRD5A3 |
Zornitza Stark gene: SRD5A3 was added gene: SRD5A3 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 26219881 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, MIM# 612379 Review for gene: SRD5A3 was set to AMBER Added comment: Many CDGs have epilepsy as a feature, and note brain abnormalities with this particular CDG,w which may be expected to contribute to the development of epilepsy. However, paucity of reports of patients with molecularly confirmed diagnosis and epilepsy. Sources: Expert list |
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