Genopathy
Gene-Disorder Association · Article
Gene
CDK5RAP2
CDK5 Regulatory Subunit Associated Protein 2
Disorder
Microcephaly 3, Primary, Autosomal Recessive
First reported 2000
Supporting publications 10
Key publication · gene–disorder A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.American journal of human genetics · 2000
Manually curated
Association Review

In brief

The association between CDK5RAP2 (CDK5 Regulatory Subunit Associated Protein 2) and Microcephaly 3, Primary, Autosomal Recessive is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 198
Symptoms 26
Compounds 0
Trials 0
Publications 10
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
CDK5RAP2

The gene

1 source summary

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

Request access
04
Microcephaly 3, Primary, Autosomal Recessive

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

15 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

198 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

10 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access