KCNQ3

potassium voltage-gated channel subfamily Q member 3

2 disorders 1 causative 1 untyped 8q24.22 gene with protein product

HGNC:6297 Monarch NCBI Gene 3786 ENSG00000184156 UniProt O43525 OMIM 602232

Previous symbols: EBN2. Aliases: Kv7.3.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Benign Neonatal Seizures	causative	mechanism: KCNQ3 Pathogenic Variant; Kv7.2/Kv7.3 M-Channel Dysfunction subtype: KCNQ3-BFNS animal model: Mouse (Mus musculus) discussion: (unnamed) scoped to subtype: KCNQ3-BFNS
Epilepsy	untyped Causative

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
self-limited familial neonatal epilepsy MONDO:0100023	AD	Moderate 2023-08-01	no dismech entry
complex neurodevelopmental disorder MONDO:0100038	AD	Definitive 2023-08-01	no dismech entry
genetic developmental and epileptic encephalopathy MONDO:0100062	AR	Limited 2023-08-01	Genetic Developmental and Epileptic Encephalopathy not named

Mechanism modules · computed from kb/

epilepsy_excitation_inhibition_imbalance via Benign Neonatal Seizures

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.