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Genetic Epilepsy v0.1007 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Genetic Epilepsy v0.1006 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Genetic Epilepsy v0.365 NBEA Zornitza Stark Marked gene: NBEA as ready
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.365 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.364 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder, more than half had epilepsy.
Sources: Expert list