Tracy Lester reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Seizures reported in 3/5 unrelated probands carrying monoallelic variants in GRIA4 (PMID 29220673). Mouse model carrying a GRIA4 variant display absence epilepsy (PMID 18316356).
Sarah Leigh Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities, MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Sarah Leigh Mode of inheritance for gene: GRIA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown