familial temporal lobe epilepsy 7
Findings
No curated finding names familial temporal lobe epilepsy 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.
Definition from the Mondo Disease Ontology (MONDO:0014639), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Focal sensory seizure with auditory featuresHPOHP:0011158
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RELNHGNC:9957
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2016
Where it sits
- A kind of
Other names
3 names
Resolves to: familial temporal lobe epilepsy 7
- Also called
- epilepsy, familial temporal lobe, type 7ETL7familial temporal lobe epilepsy type 7