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KCNH5

Synonyms
EAG2, H-EAG2, Kv10.2, hEAG2
External resources
Summary
This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants.

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
6
Likely pathogenic
3
VUS
4,529
Likely benign
5,175
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on KCNH5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood-forming tissues
22.2%
Abnormality of head or neck
22.2%
Abnormality of the eye
22.2%
Abnormality of limbs
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
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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