LGI3
Chr 8leucine rich repeat LGI family member 3
Also known as: IDDMDS, LGIL4
Predicted to be involved in regulation of exocytosis. Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]
ResearchGenerating clinical summary…
Primary Disease Associations & Inheritance
UniProtIntellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 2.44
OE 0.48 (0.30–0.77)
Typical tolerance to LoF variation
Missense Constraint?
0.49Z-score
OE missense 0.92 (0.84–1.02)
308 obs / 333.2 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.48 (0.30–0.77)
0≤0.351.4
Missense OE?0.92 (0.84–1.02)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 12 / 25.2Missense obs/exp: 308 / 333.2Syn Z: -0.22
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LGI3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools