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Genetic Epilepsy v0.2065 | GRIA1 | Zornitza Stark Marked gene: GRIA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2065 | GRIA1 | Zornitza Stark Gene: gria1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2065 | GRIA1 |
Zornitza Stark gene: GRIA1 was added gene: GRIA1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: GRIA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRIA1 were set to 35675825 Phenotypes for gene: GRIA1 were set to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Review for gene: GRIA1 was set to RED Added comment: RED/AMBER for the bi-allelic association: single family reported. Recurrent missense for the mono-allelic association. However phenotype was predominantly ID. Seizures in one individual only. Sources: Expert list |