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KCNQ2

Synonyms
BFNC, DEE7, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
External resources
Summary
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene.

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
2,665
Likely benign
2,121
Benign
6,693

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on KCNQ2 gene are displayed below. The following symptoms were found in patients with a variant in KCNQ2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
100%
Abnormality of the musculoskeletal system
66.7%
Abnormality of head or neck
44.4%
Abnormality of the respiratory system
22.2%
Abnormality of limbs
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the eye
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
Abnormality of the voice
11.1%
Constitutional symptom
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Growth abnormality
0%
Neoplasm
0%

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