Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
1
- Unique Cases:
- 15
- Disorders:
- ID, ASD, EP
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- SLC6A1 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828). The translocation of GABA, however, may also occur in the reverse direction leading to the release of GABA (By similarity). The direction and magnitude of GABA transport is a consequence of the prevailing thermodynamic conditions, determined by membrane potential and the intracellular and extracellular concentrations of Na(+), Cl(-... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- GAT1, GABATR, GABATHG, GAT-1, hGAT-1
- Chromosomal Location
- 3p25.3
- Genomic Coordinates
- GRCh37:chr3:11034420-11080935
- GRCh38:chr3:10992748-11039247
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy
Predictive Scores:
- HI Score (Decipher)
15.39
- pLI (gnomAD)
1.00
- LOEUF (gnomAD)
0.15
Classifications from External Sources:
- SFARI Score (SFARI)
1
- DDG2P Classification (DDG2P)
No Classification
- ClinGen Classification (ClinGen)
No Classification
- GenCC Classification (GenCC)
Strong2 Supportive1 Definitive1
Cases:
Publications:
De Rubeis S et. al., Synaptic, transcriptional and chromatin genes disrupted in autism., Nature, 2014 |
Kim SY et. al., Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies., Seizure, 2019 |
Yang L et. al., Clinical and genetic spectrum of a large cohort of children with epilepsy in China., Genet Med, 2019 |
Montagne L et. al., CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability., Mol Metab, 2018 |
Ko A et. al., Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy., Epilepsy Res, 2018 |
Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015 |
Zhao X et. al., Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing., Neurol Sci, 2022 |
External References:
![Medgen](https://dbd.geisingeradmi.org/external-resources/medgen.png)
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](https://dbd.geisingeradmi.org/external-resources/gene_reviews.png)
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](https://dbd.geisingeradmi.org/external-resources/decipher-logo-grch38.png)
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](https://dbd.geisingeradmi.org/external-resources/SFARI_Logo_2.jpeg)
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](https://dbd.geisingeradmi.org/external-resources/logo.png)
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](https://dbd.geisingeradmi.org/external-resources/genecc-logo.jpeg)
GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
![gnomAD](https://dbd.geisingeradmi.org/external-resources/gnomad.jpeg)
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.