Developmental Brain Disorder Gene Database
LoF Variant Gene
- Unique Cases:
- ID, ASD
- Last Updated:
- September 1, 2022
- DBD Genes Classification
- DSCAM 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
- 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
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism
|Iossifov I et. al., The contribution of de novo coding mutations to autism spectrum disorder., Nature, 2014|
|Beighley JS et. al., Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes., Biol Psychiatry, 2020|
|De Rubeis S et. al., Synaptic, transcriptional and chromatin genes disrupted in autism., Nature, 2014|
|Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018|
|Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016|
|Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019|
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.
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