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SCN1B

Synonyms
ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1
External resources
Summary
Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
2
VUS
2,483
Likely benign
708
Benign
1,829

Patient phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on SCN1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormality of the eye
14.3%
Abnormality of the integument
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
14.3%
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the nervous 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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