Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
2
- Unique Cases:
- 9
- Disorders:
- ID, ASD, EP, ADHD, SCZ
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- SCN8A is an Emerging candidate gene classified as Tier 2. Tier 2 genes have two de novo pathogenic loss-of-function variants.
- Gene Function
- Mediates the voltage-dependent sodium ion permeability of excitable membranes (PubMed:29726066). 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. {ECO:0000269|PubMed:19136557, ECO:0000269|PubMed:29726066, ECO:0000269|PubMed:33245860, ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:36823201}. [Isoform 5]: In macrophages... (Source: Uniprot)
- Previous symbols
- MED
- Alias symbols
- Nav1.6, NaCh6, PN4, CerIII, CIAT
- Chromosomal Location
- 12q13.13
- Genomic Coordinates
- GRCh37:chr12:51985020-52206648
- GRCh38:chr12:51591233-51812864
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder
Predictive Scores:
- HI Score (Decipher)
5.53
- pLI (gnomAD)
1.00
- LOEUF (gnomAD)
0.13
Classifications from External Sources:
- SFARI Score (SFARI)
1
- DDG2P Classification (DDG2P)
No Classification
- ClinGen Classification (ClinGen)
Definitive1
- GenCC Classification (GenCC)
Definitive4 Supportive3 Strong4 Limited1
Cases:
Publications:
Berghuis B et. al., Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy., Epilepsy Res, 2015 |
Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015 |
Wang Q et. al., Effect of Damaging Rare Mutations in Synapse-Related Gene Sets on Response to Short-term Antipsychotic Medication in Chinese Patients With Schizophrenia: A Randomized Clinical Trial., JAMA Psychiatry, 2018 |
Trudeau MM et. al., Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation., J Med Genet, 2006 |
External References:
NCBI: Gene
Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
Gene Reviews
An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
DECIPHER
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.
DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
SFARI
SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
ClinGen
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
gnomAD
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.