LGI1 Chromosome 10
Leucine rich glioma inactivated 1
Upload your DNA to see your personal genotypes for variants in LGI1.
What This Gene Does
This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
LGI family
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000108231
Associated Conditions (9)
Autosomal dominant epilepsy with auditory features
Inborn genetic diseases
Epilepsy
familial temporal lobe
1
LGI1-related disorder
Seizure
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 121
Genitopatellar syndrome
Key Variants
RS1162193591
Conflicting classifications of pathogenicity
Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features
Health Risk
RS1263918669
Conflicting classifications of pathogenicity
Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features
Health Risk
RS140752487
Conflicting classifications of pathogenicity
Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features
Health Risk
RS143808356
Conflicting classifications of pathogenicity
Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features
Health Risk
RS145675377
Conflicting classifications of pathogenicity
Epilepsy, familial temporal lobe, 1
Health Risk
RS146425212
Conflicting classifications of pathogenicity
Epilepsy, familial temporal lobe, 1
Health Risk
RS147469708
Conflicting classifications of pathogenicity
Epilepsy, familial temporal lobe, 1
Health Risk
RS148263562
Conflicting classifications of pathogenicity
Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features
Health Risk
RS148804268
Conflicting classifications of pathogenicity
Epilepsy, familial temporal lobe, 1
Health Risk
RS151104648
Conflicting classifications of pathogenicity
Epilepsy, familial temporal lobe, 1
Health Risk
RS201376381
Conflicting classifications of pathogenicity
Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features
Health Risk
RS202148793
Conflicting classifications of pathogenicity
Epilepsy, familial temporal lobe, 1
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1027289865 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Epilepsy, familial temporal lobe |
| RS104894166 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS104894167 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS1060502053 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS1060502054 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS119488100 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS148862146 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features |
| RS1554907767 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS1554907787 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS1564845068 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS1589762127 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS1589771134 | Health Risk | Pathogenic | — |
| RS1589776148 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2059988348 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2134001099 | Health Risk | Pathogenic | — |
| RS2134017940 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2134017952 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2134020912 | Health Risk | Pathogenic | — |
| RS2134021516 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2134026513 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2134026684 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2134026964 | Health Risk | Pathogenic | Genitopatellar syndrome, Epilepsy, familial temporal lobe |
| RS2134027169 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2492860700 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2492903992 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS2492919720 | Health Risk | Pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS28937874 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS28939075 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS797044998 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS869025201 | Health Risk | Pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS119488099 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial temporal lobe, 1 |
| RS1364913665 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant epilepsy with auditory features, Epilepsy, familial temporal lobe |
| RS1554907835 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant epilepsy with auditory features, Inborn genetic diseases, Autosomal dominant epilepsy with auditory features |
| RS2133975489 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features |
| RS797044999 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial temporal lobe, 1 |