LGI4 Chromosome 19
Leucine rich repeat LGI family member 4
Upload your DNA to see your personal genotypes for variants in LGI4.
What This Gene Does
Involved in regulation of myelination. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in arthrogryposis multiplex congenita-1 and childhood absence epilepsy. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
LGI family
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000153902
Associated Conditions (8)
Arthrogryposis multiplex congenita 1
neurogenic
with myelin defect
Inborn genetic diseases
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita 2
neurogenic type
Key Variants
RS140614229
Conflicting classifications of pathogenicity
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS201728190
Conflicting classifications of pathogenicity
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
Health Risk
RS1201430967
Likely pathogenic
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
Health Risk
RS1555733773
Likely pathogenic
Health Risk
RS1555734932
Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS1600470099
Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS2065136111
Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS2065139570
Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS2065190797
Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS2513320717
Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS2513330090
Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
RS1064797093
Pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140614229 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS201728190 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS1201430967 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS1555733773 | Health Risk | Likely pathogenic | — |
| RS1555734932 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS1600470099 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS2065136111 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS2065139570 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS2065190797 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS2513320717 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS2513330090 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS1064797093 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS1064797094 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS1064797095 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS1207534366 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 2, neurogenic type, Arthrogryposis multiplex congenita 2 |
| RS1366269616 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS755500591 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS775997446 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| RS779232987 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |