Previous symbols: SCN2A1, SCN2A2. Aliases: Nav1.2, HBSCII, HBSCI.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Benign Familial Infantile Epilepsy | causative |
mechanism: SCN2A Nav1.2 Variant-Specific Excitability
subtype: SCN2A-related BFNIS
dataset: PMID:38160512
discussion: (unnamed)
scoped to subtype: SCN2A-related BFNIS
|
| Early-Infantile Developmental and Epileptic Encephalopathy | causative de novo | |
| Genetic Developmental and Epileptic Encephalopathy | causative |
mechanism: Genetic Lesion in an Ion Channel or Synaptic Gene
|
| SCN2A-Related Developmental and Epileptic Encephalopathy | causative germline |
mechanism: SCN2A Variant (Nav1.2 Dysfunction)
treatment: Elsunersen (SCN2A-Directed Antisense Oligonucleotide)
|
| Autism Spectrum Disorder |
untyped
Risk Factor
|
|
| Dravet_syndrome |
untyped
Rare Pathogenic Mutations
|
|
| Epilepsy |
untyped
Causative
|
|
| Infantile Spasms | no genetic record |
mechanism: Heterogeneous developmental brain etiologies
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2019-05-07 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.