Familial Focal Epilepsies
Gene: LGI1EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 3 panels
1 review
Arianna Tucci (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Epilepsy, familial temporal lobe, 1 600512
- OMIM
- 604619
- Clinvar variants
- Variants in LGI1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)LGI1 was added to Familial Focal Epilepsiespanel. Sources: Expert Review
Created
Arianna Tucci (Genomics England Curator)LGI1 was created by arianna