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Early onset or syndromic epilepsy v2.420 GRIN1 Sarah Leigh Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; NDHMSR; Mental retardation, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254; NDHMSD; early onset epileptic encephalopathies; involuntary movements; severe developmental delay; intellectual disability; EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Early onset or syndromic epilepsy v1.191 GRIN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GRIN1.
Early onset or syndromic epilepsy v1.190 GRIN1 Rebecca Foulger Source NHS GMS was added to GRIN1.
Early onset or syndromic epilepsy v1.189 GRIN1 Rebecca Foulger reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GRIN1 Tracy Lester reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164704; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures,614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures,617820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy GRIN1 Sarah Leigh Added gene to panel