SCN1A
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SCN1A (HGNC:10585) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
sodium voltage-gated channel alpha subunit 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SCN1, FEB3
Alias symbols
Nav1.1, GEFSP2, HBSCI, NAC1, SMEI
%HI
9.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.1(Read more about gnomAD LOEUF score)
Cytoband
2q24.3
Genomic Coordinates
GRCh37/hg19: chr2:166841151-167005671 NCBI Ensembl UCSC
GRCh38/hg38: chr2:165984641-166149161 NCBI Ensembl UCSC
MANE Select Transcript
NM_001165963.4 ENST00000674923.1 (Read more about MANE Select)
Function
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:14672992). Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19996
ClinGen Curation ID:
CCID:007806
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • developmental and epileptic encephalopathy, 6 Monarch
HI Evidence:
  • PUBMED: 11359211
    Claes (2001): Identified mutations in SCN1A (including 4 frameshift mutations) in 7 unrelated patients with SMEI. All mutations were de novo and were not observed in 184 control chromosomes.
  • PUBMED: 11940708
    Sugawara (2002): Identified 10 mutations in SCN1A (including 3 frameshift mutations and 7 nonsense mutations) in 14 patients with SMEI.
  • PUBMED: 18930999
    Depienne (2009): Identified mutations or deletions in SCN1A in 242 of 333 patients with Dravet syndrome.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)