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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
32
Likely pathogenic
23
VUS
11,310
Likely benign
11,241
Benign
3,734

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on KCNH2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.8%
Abnormality of the musculoskeletal system
35.1%
Abnormality of head or neck
24.3%
Abnormality of the ear
21.6%
Abnormality of the cardiovascular system
16.2%
Abnormality of the genitourinary system
10.8%
Growth abnormality
8.1%
Abnormality of limbs
5.4%
Abnormality of the digestive system
5.4%
Abnormality of the eye
5.4%
Abnormality of blood and blood-forming tissues
2.7%
Abnormality of the breast
2.7%
Abnormality of the endocrine system
2.7%
Abnormality of the immune system
2.7%
Abnormality of the integument
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
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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