DSCAML1
Chr 11DS cell adhesion molecule like 1
Also known as: DSCAM2
DSCAML1 encodes a cell adhesion molecule that promotes neuronal self-avoidance by mediating repulsion between neuronal processes of the same cell or cell type, and facilitates lamina-specific synaptic connections in the retina. Mutations cause autosomal dominant or recessive intellectual disability and developmental delay, with some patients showing additional features including autism spectrum disorder and seizures. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
DSCAML1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools