Developmental Brain Disorder Gene Database
LoF Variant Gene
HGNC:14287 (protein-coding gene)
neuroligin 4 X-linked
- Unique Cases:
- ID, ASD
- Last Updated:
- May 1, 2021
- DBD Genes Classification
- NLGN4X is a Emerging candidate gene classified as Tier 3. Tier 3 genes have one de novo pathogenic loss-of-function variants.
- Gene Function
- Putative neuronal cell surface protein involved in cell-cell- interactions. (Source: Uniprot)
- Previous symbols
- Alias symbols
- KIAA1260, NLGN, HLNX
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism
|Husson T et. al., Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use., Transl Psychiatry, 2020|
|Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019|
|Yu TW et. al., Using whole-exome sequencing to identify inherited causes of autism., Neuron, 2013|
|Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015|
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.
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 (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 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 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.
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
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.