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Epileptic encephalopathy

Gene: LGI1

Red List (low evidence)

LGI1 (leucine rich glioma inactivated 1)
EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 3 panels

5 reviews

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

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.
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.
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
  • Expert Review Red
  • Expert
  • UKGTN
Phenotypes
  • Epilepsy, familial temporal lobe, 1
OMIM
604619
Clinvar variants
Variants in LGI1
Penetrance
Complete
Publications
  • Berkovic et al (2004) Neurology 62: 1115-1119
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

29 Jan 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LGI1 were set to Berkovic et al (2004) Neurology 62: 1115-1119

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LGI1 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LGI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LGI1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LGI1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert