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Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Marked gene: SEMA6B as ready
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Classified gene: SEMA6B as Green List (high evidence)
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.632 SEMA6B Zornitza Stark gene: SEMA6B was added
gene: SEMA6B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6B were set to 32169168
Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy
Mode of pathogenicity for gene: SEMA6B was set to Other
Review for gene: SEMA6B was set to GREEN
Added comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature