Genopathy
Gene-Disorder Association · Article
Gene
CDKL5
Cyclin Dependent Kinase Like 5
Disorder
Fundus Dystrophy
First reported 2008
Supporting publications 82
Key publication · gene–disorder ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.Documenta ophthalmologica. Advances in ophthalmology · 2008
Key publication · disorder Further cases of a fundus dystrophy with unusual features.The British journal of ophthalmology · 1950
Manually curated
Association Review

In brief

The association between CDKL5 (Cyclin Dependent Kinase Like 5) and Fundus Dystrophy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 84
Symptoms 0
Compounds 0
Trials 0
Publications 82
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

1 source

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

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03
CDKL5

The gene

1 source summary

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

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04
Fundus Dystrophy

The disorder

6 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

84 clinical variants

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

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06
Literature

Reading

82 publications

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

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07
Provenance

References & sources

10 references

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

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