Genopathy
Gene-Disorder Association · Article
Gene
CAMSAP1
Calmodulin Regulated Spectrin Associated Protein 1
Disorder
Cortical Dysplasia, Complex, With Other Brain Malformations 12
First reported 1998
Supporting publications 1
Key publication · disorder Tuberous sclerosis-related gene expression in normal and dysplastic brain.Epilepsy research · 1998
Manually curated
Association Review

In brief

The association between CAMSAP1 (Calmodulin Regulated Spectrin Associated Protein 1) and Cortical Dysplasia, Complex, With Other Brain Malformations 12 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 5
Symptoms 60
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
CAMSAP1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Cortical Dysplasia, Complex, With Other Brain Malformations 12

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

26 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

5 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

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