| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1360 | GATAD2B | Zornitza Stark Marked gene: GATAD2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1360 | GATAD2B | Zornitza Stark Gene: gatad2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1360 | GATAD2B | Zornitza Stark Classified gene: GATAD2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1360 | GATAD2B | Zornitza Stark Gene: gatad2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1359 | GATAD2B |
Zornitza Stark gene: GATAD2B was added gene: GATAD2B was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATAD2B were set to 32688057 Phenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074 Review for gene: GATAD2B was set to AMBER Added comment: More than 70 patients reported: - loss-of-function and missense variants - clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly. Seizures are a rare feature. Sources: Expert Review |
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