Genopathy
Gene-Disorder Association · Article
Gene
CPLANE1
Ciliogenesis And Planar Polarity Effector Complex Subunit 1
Disorder
Joubert Syndrome 17
First reported 2014
Supporting publications 23
Key publication · gene–disorder C5orf42 is the major gene responsible for OFD syndrome type VI.Human genetics · 2014
Key publication · disorder Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.Neurology · 1969
Manually curated
Association Review

In brief

The association between CPLANE1 (Ciliogenesis And Planar Polarity Effector Complex Subunit 1) and Joubert Syndrome 17 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 821
Symptoms 17
Compounds 0
Trials 0
Publications 23
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

4 sources

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

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03
CPLANE1

The gene

1 source summary

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

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04
Joubert Syndrome 17

The disorder

10 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

10 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

821 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

23 publications

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

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09
Provenance

References & sources

15 references

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

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