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KCNK13

Synonyms
K2p13.1, THIK-1, THIK1
External resources
Summary
Potassium 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 potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane.

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
328
Likely pathogenic
0
VUS
635
Likely benign
8
Benign
0

Patient phenotypes

Proportions of phenotypes among 276 patients carring pathogenic or likely pathogenic variants on KCNK13 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.3%
Abnormality of the eye
30.8%
Abnormality of the musculoskeletal system
25.4%
Abnormality of the cardiovascular system
25%
Abnormality of head or neck
20.3%
Abnormality of the ear
13.4%
Abnormality of the genitourinary system
11.2%
Abnormality of the integument
10.9%
Abnormality of limbs
10.5%
Growth abnormality
10.1%
Abnormality of the immune system
9.1%
Abnormality of the digestive system
8%
Abnormality of the endocrine system
5.1%
Abnormality of the respiratory system
3.6%
Neoplasm
3.6%
Abnormality of blood and blood-forming tissues
2.2%
Abnormal cellular phenotype
1.1%
Abnormality of prenatal development or birth
0.7%
Abnormality of the breast
0.7%
Constitutional symptom
0.7%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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