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Early onset or syndromic epilepsy v1.260 GABBR2 Rebecca Foulger Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome to EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Epileptic encephalopathy, early infantile, 59, 617904
Early onset or syndromic epilepsy v1.191 GABBR2 Rebecca Foulger Source Wessex and West Midlands GLH was added to GABBR2.
Early onset or syndromic epilepsy v1.190 GABBR2 Rebecca Foulger Source NHS GMS was added to GABBR2.
Early onset or syndromic epilepsy v1.189 GABBR2 Rebecca Foulger reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GABBR2 Tracy Lester reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28856709, 29100083 ; Phenotypes: Epileptic encephalopathy, early infantile, 59,617904, Neurodevelopmental disorder with poor language and loss of hand skills,617903, {Nicotine dependence, protection against},188890, {Nicotine dependence, susceptibility to},188890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy GABBR2 Sarah Leigh Added gene to panel