CAMSAP1

Chr 9

calmodulin regulated spectrin associated protein 1

Also known as: CDCBM12

NCBI Gene: 157922ENSG00000130559UniProt: Q5T5Y3

CAMSAP1 encodes a key microtubule-organizing protein that specifically binds and stabilizes the minus-ends of non-centrosomal microtubules, protecting them from depolymerization and regulating neurite outgrowth through spectrin interactions. Biallelic mutations cause autosomal recessive cortical dysplasia with other brain malformations, affecting cortical development and brain structure. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.24), reflecting its critical role in neurodevelopment.

ResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismLOEUF 0.24
Clinical Summary— CAMSAP1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
67 unique Pathogenic / Likely Pathogenic· 239 VUS of 369 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.24LOEUF
pLI 1.000
Z-score 6.25
OE 0.13 (0.08–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.15Z-score
OE missense 0.80 (0.76–0.85)
763 obs / 949.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.13 (0.08–0.24)
0≤0.351.4
Missense OE0.80 (0.76–0.85)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 8 / 60.4Missense obs/exp: 763 / 949.8Syn Z: -0.67
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateCAMSAP1-related neuronal migration disorderOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.3992th %ile
GOF
0.4578th %ile
LOF
0.68top 25%

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

369 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic58
Likely Pathogenic9
VUS239
Likely Benign32
Benign4
Conflicting3
58
Pathogenic
9
Likely Pathogenic
239
VUS
32
Likely Benign
4
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
58
0
58
Likely Pathogenic
6
0
3
0
9
VUS
0
226
13
0
239
Likely Benign
0
21
2
9
32
Benign
0
1
0
3
4
Conflicting
—3
Total62487612345

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CAMSAP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients