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Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Classified gene: SMARCA4 as Red List (low evidence)
Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1297 SMARCA4 Belinda Chong gene: SMARCA4 was added
gene: SMARCA4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA4 were set to 33333793
Phenotypes for gene: SMARCA4 were set to Refractory seizures
Review for gene: SMARCA4 was set to RED
Added comment: A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: Single patient with seizure onset at 3months old (de novo variant c.3595G>A, p.Val199Met).
Sources: Literature