LGI3

Chr 8AR

leucine rich repeat LGI family member 3

Also known as: IDDMDS, LGIL4

NCBI Gene: 203190 ENSG00000168481 UniProt: Q8N145 OMIM: 608302

The LGI3 protein regulates neuronal exocytosis and is located in the extracellular space. Mutations cause autosomal recessive intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to be involved in regulation of exocytosis. Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defectsMIM #620007

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400