10 May 2023
Early onset or syndromic epilepsy v4.30
GRIN2B
Arina Puzriakova Publications for gene: GRIN2B were set to Endele et al (2010) Nature Genet 42(11): 1021-1028
10 May 2023
Early onset or syndromic epilepsy v4.29
GRIN2B
Arina Puzriakova Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27; EPILEPTIC ENCEPHALOPATHY; AUTISM to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139
06 Aug 2019
Early onset or syndromic epilepsy v1.191
GRIN2B
Rebecca Foulger Source Wessex and West Midlands GLH was added to GRIN2B.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
GRIN2B
Rebecca Foulger Source NHS GMS was added to GRIN2B.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
GRIN2B
Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
GRIN2B
Tracy Lester reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20890276; Phenotypes: Epileptic encephalopathy, early infantile, 27,616139, Mental retardation 6,613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Apr 2018
Early onset or syndromic epilepsy
GRIN2B
Sarah Leigh Added gene to panel