Developmental Brain Disorder Gene Database

LoF Variant Gene

Gene
Search

Tier

3

NLGN4X

HGNC:14287 (protein-coding gene)

neuroligin 4 X-linked

Unique Cases:
4
Disorders:
ID, ASD
Last Updated:
May 1, 2021

Gene Summary:

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
NLGN4
Alias symbols
KIAA1260, NLGN, HLNX
Chromosomal Location
Xp22.32-p22.31
Genomic Coordinates
GRCh37:chrX:5808067-6146923
GRCh38:chrX:5890042-6228878
Associated Disorders
Intellectual Disability, Autism

Predictive Scores:

HI Score (Decipher)

64.4

pLI (gnomAD)

0.99

LOEUF (gnomAD)

0.25

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Limited

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Limited1 Moderate1 Strong1 Definitive1

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.
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