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KCNH8

Synonyms
ELK, ELK1, Kv12.1, elk3
External resources
Summary
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit.

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
13
Likely pathogenic
842
VUS
5,193
Likely benign
1,069
Benign
0

Patient phenotypes

Proportions of phenotypes among 854 patients carring pathogenic or likely pathogenic variants on KCNH8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.9%
Abnormality of the musculoskeletal system
18.6%
Abnormality of head or neck
16.4%
Growth abnormality
11.4%
Abnormality of the eye
11.1%
Abnormality of blood and blood-forming tissues
10%
Abnormality of the ear
9.1%
Abnormality of the genitourinary system
7%
Abnormality of the cardiovascular system
6.4%
Abnormality of the immune system
3.5%
Abnormality of the digestive system
3.4%
Abnormality of limbs
2.9%
Abnormality of the integument
2.3%
Abnormality of prenatal development or birth
1.8%
Abnormality of the endocrine system
1.8%
Abnormality of the respiratory system
1.8%
Neoplasm
0.9%
Constitutional symptom
0.5%
Abnormal cellular phenotype
0.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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