KCNQ1

potassium voltage-gated channel subfamily Q member 1

5 disorders 3 causative 2 untyped 11p15.5-p15.4 gene with protein product

HGNC:6294 Monarch NCBI Gene 3784 ENSG00000053918 UniProt P51787 OMIM 607542

Previous symbols: LQT, KCNA9. Aliases: Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1.

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
Familial Atrial Fibrillation	causative germline	mechanism: Atrial Ion-Channel or Coupling Variant; Shortened Atrial Action Potential and Refractoriness subtype: KCNQ1-related scoped to subtype: KCNQ1-related
Familial Long QT Syndrome	causative	mechanism: Reduced Repolarizing Potassium Current subtype: Type 1 computational model: O'Hara-Rudy (ORd) Human Ventricular Action Potential Model scoped to subtype: Type 1
Jervell and Lange-Nielsen Syndrome 1	causative germline loss of function	mechanism: Biallelic KCNQ1 Loss-of-Function Variants
Hereditary Gingival Fibromatosis	untyped Modifier/Mechanistic	mechanism: Constitutive RAS-MAPK Signaling in Gingival Fibroblasts
Short QT Syndrome	untyped Causative	mechanism: Ion-channel gain- and loss-of-function variants subtype: SQTS2 scoped to subtype: SQTS2

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
short QT syndrome MONDO:0000453	AD	Strong 2020-10-27	Short QT Syndrome untyped
Jervell and Lange-Nielsen syndrome MONDO:0002441	AR	Definitive 2017-12-19	no dismech entry
long QT syndrome MONDO:0002442	AD	Definitive 2018-09-25	no dismech entry
hypertrophic cardiomyopathy MONDO:0005045	AD	Disputed 2022-05-09	Hypertrophic Cardiomyopathy not named

Mechanism modules · computed from kb/

cardiac_ion_channel_repolarization via Familial Atrial Fibrillation, Familial Long QT Syndrome, Jervell and Lange-Nielsen Syndrome 1, Short QT Syndrome named in the module itself

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