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KCND1

Synonyms
KV4.1
External resources
Summary
This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction.

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
173
Likely pathogenic
0
VUS
1,521
Likely benign
183
Benign
0

Patient Phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on KCND1 gene are displayed below. The following symptoms were found in patients with a variant in KCND1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.3%
Abnormality of head or neck
28.6%
Abnormality of the musculoskeletal system
17.9%
Growth abnormality
17.9%
Abnormality of the cardiovascular system
10.7%
Abnormality of the genitourinary system
7.1%
Abnormality of limbs
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the digestive system
3.6%
Abnormality of the ear
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the eye
3.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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