CAMSAP1

Chr 9AR

calmodulin regulated spectrin associated protein 1

Also known as: CDCBM12

NCBI Gene: 157922ENSG00000130559UniProt: Q5T5Y3

Enables microtubule minus-end binding activity and spectrin binding activity. Involved in several processes, including neuron projection development; regulation of cell morphogenesis; and regulation of microtubule polymerization. Located in microtubule minus-end. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Cortical dysplasia, complex, with other brain malformations 12MIM #620316
AR
0
Active trials
20
Pathogenic / LP
275
ClinVar variants
1
Pubs (1 yr)
2.2
Missense Z
0.24
LOEUF· LoF intolerant
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
20 Pathogenic / Likely Pathogenic· 226 VUS of 275 total submissions

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

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.24

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

275 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
VUS226
Likely Benign28
Conflicting1
20
Pathogenic
226
VUS
28
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
20
0
20
Likely Pathogenic
0
0
0
0
0
VUS
0
220
6
0
226
Likely Benign
0
19
1
8
28
Benign
0
0
0
0
0
Conflicting
—1
Total0239278275

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

View in ClinVar →

CAMSAP1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

CAMSAP1-related neuronal migration disorder

moderate
ARUndeterminedAbsent Gene Product, Decreased Gene Product Level
Dev. Disorders
G2P ↗
stop gained NMD triggeringframeshift variant NMD triggering

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
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