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Early onset or syndromic epilepsy v1.191 GRIA4 Rebecca Foulger Source Wessex and West Midlands GLH was added to GRIA4.
Early onset or syndromic epilepsy v1.190 GRIA4 Rebecca Foulger Source NHS GMS was added to GRIA4.
Early onset or syndromic epilepsy v1.189 GRIA4 Rebecca Foulger reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GRIA4 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
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Marked gene: GRIA4 as ready
Early onset or syndromic epilepsy v0.450 GRIA4 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).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Gene: gria4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Publications for gene: GRIA4 were set to 29220673; 25010494
Early onset or syndromic epilepsy v0.449 GRIA4 Sarah Leigh Publications for gene: GRIA4 were set to 29220673
Early onset or syndromic epilepsy v0.448 GRIA4 Sarah Leigh Classified gene: GRIA4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.448 GRIA4 Sarah Leigh Gene: gria4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.447 GRIA4 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
Early onset or syndromic epilepsy v0.446 GRIA4 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
Early onset or syndromic epilepsy GRIA4 Zornitza Stark Added gene to panel