GENE REFERENCE / HGNC:6572

LGI1

leucine rich glioma inactivated 1

protein-coding gene10q23.33Gene information

What does this gene do?

The LGI1 gene provides instructions for making a protein called leucine-rich glioma inactivated 1 (Lgi1) or epitempin. This protein is found primarily in nerve cells (neurons) in the brain, including a part of the brain called the temporal lobe. The temporal lobe is involved in hearing, speech, memory, and emotion.

Although researchers have proposed several functions for epitempin, its precise role in the brain remains uncertain. This protein is probably involved in normal brain development.

Some studies have suggested that epitempin plays a role in the normal function of potassium channels in neurons. These channels are embedded in the cell membrane, and they transport charged potassium atoms (potassium ions) out of neurons. Potassium channels are critical for normal electrical signaling in these cells. Other studies have found that epitempin is transported out of neurons. The function of this protein outside cells is unclear.

Epitempin may also help regulate communication between neurons. Researchers have determined that epitempin attaches (binds) to a receptor protein called ADAM22 on the surface of neurons. Together, these proteins help control the release of certain brain chemicals called neurotransmitters. These chemicals allow neighboring neurons to communicate with each other, which is how signals are relayed throughout the brain.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-11-08. Source review: 2023-11.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
autosomal dominant epilepsy with auditory featuresMONDO:0010898 · Evaluated 2020-07-07	Autosomal dominant	DefinitiveEpilepsy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 615
Submissions for variants in or overlapping this gene: 867
Submissions explicitly reporting this gene: 830
Alleles reported pathogenic / likely pathogenic: 82
VariationIDs with uncertain significance: 284
VariationIDs with conflicting classifications: 32

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about LGI1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 82 alleles in LGI1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in LGI1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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