Epileptic encephalopathy
Gene: LGI1EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 3 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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.Created: 29 Jan 2016, 11:39 a.m.
Richard Scott (North Thames GMC/UCL)
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
-
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LGI1 were set to Epilepsy, familial temporal lobe, 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LGI1 were set to Berkovic et al (2004) Neurology 62: 1115-1119
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)LGI1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
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
Added New Source
Ellen McDonagh (Genomics England Curator)LGI1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)LGI1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert