Developmental Brain Disorder Gene Database

Missense Gene

Gene

Return to Missense Gene Listing Page

Missense

DSCAM

HGNC:3039 (protein-coding gene)

DS cell adhesion molecule

Unique Cases:: 5

Disorders:: ASD, SCZ

Last Updated:: November 4, 2024

Gene Summary:

Gene Function: Cell adhesion molecule that plays a role in neuronal self- avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self- avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies (PubMed:10925149). Receptor for netrin required for axon guidance independ... (Source: Uniprot)

Previous symbols: No previous symbols

Alias symbols: CHD2-42, CHD2-52

Chromosomal Location: 21q22.2

Genomic Coordinates: GRCh37:chr21:41384343-42219039; GRCh38:chr21:40010999-40847158

Associated Disorders: Autism

Predictive Scores:

HI Score (Decipher): 11.07

pLI (gnomAD): 1.00

LOEUF (gnomAD): 0.19

Classifications from External Sources:

SFARI Score (SFARI): 1

DDG2P Classification (DDG2P): No Classification

ClinGen Classification (ClinGen): No Classification

GenCC Classification (GenCC): Moderate1

Cases:

Publications:

Howrigan DP et. al., Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations., Nat Neurosci, 2020

Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020

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.

NCBI: Gene

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.

Gene Reviews

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.

DECIPHER

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.

SFARI

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.

ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

GenCC

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.