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KCNH2

Synonyms
ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1, LQT2, SQT1
External resources
Summary
This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
29
Likely pathogenic
13
VUS
3,837
Likely benign
6,420
Benign
2,131

Patient phenotypes

Proportions of phenotypes among 25 patients carring pathogenic or likely pathogenic variants on KCNH2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
32%
Abnormality of the ear
20%
Abnormality of head or neck
16%
Abnormality of the cardiovascular system
12%
Abnormality of the eye
12%
Growth abnormality
12%
Abnormality of the digestive system
8%
Abnormality of the immune system
8%
Abnormality of the endocrine system
4%
Abnormality of the genitourinary system
4%
Abnormality of the integument
4%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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