Intellectual disability syndromic and non-syndromic
Gene: SCN2A

SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 11 panels

1 review

sabitha sateesh (Other)

Green List (high evidence)

The SCN2A gene plays a crucial role in regulating the passage of sodium ions through excitable membranes based on the voltage difference across the membrane. By transitioning between open and closed states in response to membrane voltage, the protein forms a sodium-selective channel that allows Na(+) ions to move in alignment with their electrochemical gradient. Variations in the SCN2A gene can lead to a range of neuropsychiatric disorders, spanning from benign epilepsies that manifest early in life to severe developmental and epileptic encephalopathies with early or late onset, as well as intellectual disability (ID) or autism without seizures. Missense mutations can trigger either a gain-of-function (GoF) or loss-of-function (LoF) impact, or a combination of both. The type of mutation and its resulting functional alterations (gain or loss of function) can potentially forecast the specific phenotype and response to treatment.
Created: 22 May 2024, 10:04 a.m. | Last Modified: 22 May 2024, 10:04 a.m.

Panel Version: 0.5881

Mode of inheritance
Unknown

Phenotypes
Intellectual disability; autism; motor delay; epileptic seizures; uncoordinated oral movements; gastrointestinal disturbances; sleep problems.

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2024, 10:04 a.m.
Last Modified: 22 May 2024, 10:04 a.m.
Panel version: 0.5881

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Developmental and epileptic encephalopathy 11, MIM# 613721

OMIM

182390

Clinvar variants

Variants in SCN2A

Penetrance

None

Publications

Panels with this gene