Intellectual disability update Jan 2018
Gene: LGI1EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 3 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Associated with Epilepsy, familial temporal lobe, 1 (MIM:600512) in OMIM and AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES in Gene2Phenotype. No mention of intellectual disability phenotypes found.Created: 8 Mar 2018, 10:13 a.m.
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- Epilepsy, familial temporal lobe, 1 600512
- AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES
- OMIM
- 604619
- Clinvar variants
- Variants in LGI1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for LGI1 were set to Epilepsy, familial temporal lobe, 1 600512; AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LGI1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)LGI1 was created by Ellen McDonagh