LGI3 Chromosome 8
Leucine rich repeat LGI family member 3
Upload your DNA to see your personal genotypes for variants in LGI3.
What This Gene Does
Predicted to be involved in regulation of exocytosis. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
LGI family
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000168481
Associated Conditions (2)
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
Peripheral nerve hyperexcitability syndrome
Key Variants
RS369866919
Conflicting classifications of pathogenicity
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
Health Risk
RS1050199719
Pathogenic
Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome
Health Risk
RS1827450545
Pathogenic
Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome
Health Risk
RS2131791254
Pathogenic
Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome
Health Risk
RS2131791567
Pathogenic
Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome
Health Risk
RS2131791741
Pathogenic
Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome
Health Risk
RS2131796689
Pathogenic
Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome
Health Risk
RS2538921516
Pathogenic
Health Risk
RS749644081
Pathogenic
Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome
Health Risk
RS769376680
Pathogenic
Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369866919 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects |
| RS1050199719 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome |
| RS1827450545 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome |
| RS2131791254 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome |
| RS2131791567 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome |
| RS2131791741 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome |
| RS2131796689 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome |
| RS2538921516 | Health Risk | Pathogenic | — |
| RS749644081 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome |
| RS769376680 | Health Risk | Pathogenic | Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, Peripheral nerve hyperexcitability syndrome |