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Genetic Epilepsy v0.175 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Classified gene: NUP214 as Green List (high evidence)
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.174 NUP214 Zornitza Stark gene: NUP214 was added
gene: NUP214 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128; 30758658
Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Review for gene: NUP214 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature