DSCAM
Chr 21DS cell adhesion molecule
Also known as: CHD2, CHD2-42, CHD2-52
DSCAM encodes a cell adhesion molecule that mediates neuronal self-avoidance, axon guidance, and lamina-specific synaptic connections in retinal and spinal cord development. Mutations cause autosomal dominant intellectual disability with behavioral abnormalities and seizures, typically presenting in early childhood. This gene is extremely intolerant to loss-of-function variants, indicating that proper dosage is critical for normal neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DSCAM · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools