Rebecca Foulger Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome to EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Epileptic encephalopathy, early infantile, 59, 617904
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