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Genetic epilepsy syndromes

Gene: LGI1

Green List (high evidence)

LGI1 (leucine rich glioma inactivated 1)
EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 4 panels

9 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 11 variants reported
Created: 9 Apr 2018, 9:47 a.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, familial temporal lobe, 1

Publications

  • Berkovic et al (2004) Neurology 62: 1115-1119

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, familial temporal lobe, 1

Publications

  • Berkovic et al (2004) Neurology 62: 1115-1119

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, familial temporal lobe, 1

Publications

  • Berkovic et al (2004) Neurology 62: 1115-1119

Variants in this GENE are reported as part of current diagnostic practice

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Promoted to green as clearly associated with the phenotype in OMIM
Created: 12 Jun 2017, 9:59 a.m.
Add to the panel following expert review (Prof. Sisodiya). Gene clearly associated with the phenotype in OMIM
Created: 12 Jun 2017, 9:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial temporal lobe, 1 600512

Ellen McDonagh (Genomics England Curator)

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.

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Causes older-onset focal seizures; i.e. different phenotype.
Created: 12 Nov 2015, 2:17 p.m.

Phenotypes
Epilepsy, familial temporal lobe, 1

Publications

  • Berkovic et al (2004) Neurology 62: 1115-1119

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epilepsy, familial temporal lobe, 1 600512
OMIM
604619
Clinvar variants
Variants in LGI1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to LGI1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to LGI1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: Causes older-onset focal seizu

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to LGI1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Removed Source, Set penetrance, Set penetrance

Sarah Leigh (Genomics England Curator)

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

9 Apr 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for LGI1 were set to 15079010; 11810107; 22496201

9 Apr 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LGI1 were set to Epilepsy, familial temporal lobe, 1 600512

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

LGI1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert,UKGTN

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

LGI1 was created by Sarah Leigh