Gene Information
potassium voltage-gated channel subfamily H member 2 [Source:HGNC Symbol;Acc:HGNC:6251]
KCNH2 variants are associated with 2 diseases including short QT syndrome and familial long QT syndrome, with 19 documented clinical phenotypes.
The KCNH2 gene is associated with 2 medical conditions, including:
Research has identified 19 phenotypic features associated with KCNH2 variants:
Notched T wave
HP:0034303
Early young adult onset
HP:0025708
Sudden cardiac death
HP:0001645
Childhood onset
HP:0011463
Ventricular fibrillation
HP:0001663
Prolonged QT interval
HP:0001657
Cardiac arrest
HP:0001695
Adult onset
HP:0003581
Torsade de pointes
HP:0001664
Autosomal dominant inheritance
HP:0000006
Palpitations
HP:0001962
Syncope
HP:0001279
Paroxysmal atrial fibrillation
HP:0004757
Autosomal dominant inheritance
HP:0000006
Sudden cardiac death
HP:0001645
ClinVar contains 10 variants associated with KCNH2. Below are some notable variants:
NM_000238.4(KCNH2):c.73del (p.Gln25fs)
PathogenicVCV004528252
Review: criteria provided, single submitter
NM_000238.4(KCNH2):c.1130T>C (p.Val377Ala)
Uncertain significanceVCV004527047
Review: criteria provided, single submitter
NM_000238.4(KCNH2):c.1128+87A>G
VCV004334888
NM_000238.4(KCNH2):c.3004G>T (p.Gly1002Trp)
VCV004334881
NM_000238.4(KCNH2):c.1159G>A (p.Glu387Lys)
Uncertain significanceVCV004281913
Review: criteria provided, single submitter
There are 433 publications about KCNH2 indexed in PubMed. Below are some recent papers:
KCNH2-L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance.
Zheng XF, Chen Q, Lu XT
PMID: 41246836
•
2025 Nov
•
Mol Genet Genomic Med
Cardiac Channelopathies in the Pediatric Patient: Short QT Syndrome.
Tan RB, Shah MJ
PMID: 41206177
•
2025 Dec
•
Card Electrophysiol Clin
Integration of Multiple Mass Spectrometry Techniques and Molecular Network Analysis With Bioinformatics Approaches Revealed the Mechanism of Jiuwei Xifeng Granules in the Treatment of Tourette's Syndrome.
Zhang C, Zhao P, Xing L
PMID: 41164931
•
2026 Jan 30
•
Rapid Commun Mass Spectrom
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration.
Osouf J, Schalk A, Schaefer E
PMID: 41124747
•
2025 Oct 15
•
Forensic Sci Int Genet
Association of antipsychotic drug target genes and risk of lung cancer: a Mendelian randomization study.
Xiang J, Xiang G, Zhan M
PMID: 41118084
•
2025 Oct 21
•
Discov Oncol
Get instant, comprehensive insights on KCNH2 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025