Early onset or syndromic epilepsy
Gene: LGI1
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 familial lobe epilepsy type 1. Kalachiov et al, 2002 - het variants detected in each of the 5 families. Brodtkorb et al, 2002 & Gu et al 2002 - het missense variant identified. Berkovic et al 2004 - in affected members in 2 of 4 families - het mutations identified. Fanciulli et al, 2012 - het 81kb del including first 4 exons of gene in affected members of a 3 generation Italian family. On HGMD pro lots of missense, nonsense, splicing snall dels and ins and gross del reported in patients with an epilepsy phenotype.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, familial temporal lobe, 600512
Publications
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 11 variants reportedCreated: 9 Apr 2018, 9:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, familial temporal lobe, 1
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, familial temporal lobe, 1
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, familial temporal lobe, 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Promoted to green as clearly associated with the phenotype in OMIMCreated: 12 Jun 2017, 9:59 a.m.
Add to the panel following expert review (Prof. Sisodiya). Gene clearly associated with the phenotype in OMIMCreated: 12 Jun 2017, 9:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial temporal lobe, 1 600512
Comment on list classification: The reviewers later agreed by email that this should be red. It is a possible DD gene.Created: 29 Jan 2016, 11:39 a.m.
Causes older-onset focal seizures; i.e. different phenotype.Created: 12 Nov 2015, 2:17 p.m.
Phenotypes
Epilepsy, familial temporal lobe, 1
Publications
Source Wessex and West Midlands GLH was added to LGI1.
Source NHS GMS was added to LGI1.
Richard Scott: Causes older-onset focal seizu
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to LGI1. Panel: Genetic Epilepsy Syndromes
Source Expert was removed from LGI1. Panel: Genetic Epilepsy Syndromes Phenotypes for gene LGI1 were set to Epilepsy, familial temporal lobe, 1 600512 Penetrance for gene LGI1 was set to Incomplete
Publications for LGI1 were set to 15079010; 11810107; 22496201
Phenotypes for LGI1 were set to Epilepsy, familial temporal lobe, 1 600512
This gene has been classified as Green List (High Evidence).
LGI1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert,UKGTN
LGI1 was created by Sarah Leigh