Early onset or syndromic epilepsy
Gene: GRIN2A
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
Landau-Kleffner syndrome (epilepsy-aphasia), AD - de novo or inherited mutations in multiple cases, LOF/missense, Many many cases reported and functional studes have been undertaken.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
Epilepsy, focal, with speech disorder and with or without mental retardation,245570
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: All reviewers agree, confirmed DD gene for landau-kleffner syndrome and epilepsy with neurodevelopmental defects.Created: 5 Jan 2016, 12:25 p.m.
Comment on phenotypes: Sources: reviewers, OMIM, G2P.Created: 5 Jan 2016, 12:23 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.Created: 5 Jan 2016, 12:22 p.m.
Source Wessex and West Midlands GLH was added to GRIN2A.
Source NHS GMS was added to GRIN2A.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GRIN2A. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to GRIN2A. Panel: Genetic Epilepsy Syndromes
GRIN2A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
GRIN2A was created by Sarah Leigh