Early onset or syndromic epilepsy
Gene: GRIN2B
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD EIEE 27. Lemke et al, 2014 - 3 unrelated patients with EIEE - 2 diff de novo het missense mutations. In vitro functional expression studies showed that both mutations occurred in the ion channel-forming loop and resulted in increased calcium permeability and a GOF. Platzer ert al, 2017 - 48 individuals with de novo GRIN2B variants - half had seizures - in vitro studies done on some not all variants.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 27,616139; Mental retardation 6,613970
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on phenotypes: Sources: reviewers, OMIM, G2P.Created: 5 Jan 2016, 12:33 p.m.
Comment on mode of inheritance: Checked imprinted gene list, G2P, OMIM.Created: 5 Jan 2016, 12:32 p.m.
Publications for gene: GRIN2B were set to Endele et al (2010) Nature Genet 42(11): 1021-1028
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
Source Wessex and West Midlands GLH was added to GRIN2B.
Source NHS GMS was added to GRIN2B.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GRIN2B. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to GRIN2B. Panel: Genetic Epilepsy Syndromes
GRIN2B was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
GRIN2B was created by Sarah Leigh