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ETL1

Chr 10AD

leucine rich glioma inactivated 1

Also known as: ADLTE, ADPAEF, ADPEAF, DEE121, EPITEMPIN, EPT, ETL1, IB1099

NCBI Gene: 9211OMIM: 600512

The protein is a secreted leucine-rich repeat protein that regulates voltage-gated potassium channel activity and is involved in neuronal growth regulation and cell survival. Mutations cause autosomal dominant familial temporal lobe epilepsy. This follows autosomal dominant inheritance with a GeneReviews entry available for comprehensive clinical guidance.

OMIMResearchSummary from RefSeq, OMIM
AD1 OMIM phenotype
Clinical Summary— ETL1
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ETL1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ETL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients