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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)