| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.549 | DHFR | Zornitza Stark Marked gene: DHFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.549 | DHFR | Zornitza Stark Gene: dhfr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.549 | DHFR | Zornitza Stark Classified gene: DHFR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.549 | DHFR | Zornitza Stark Gene: dhfr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.548 | DHFR |
Zornitza Stark gene: DHFR was added gene: DHFR was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 21310276; 21310277 Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Review for gene: DHFR was set to AMBER Added comment: Three unrelated families reported, neurological disease in some severe (including seizures), others predominantly haematological presentation. Sources: Expert Review |
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