Genopathy
Gene-Disorder Association · Article
Gene
PDE6C
Phosphodiesterase 6C
Disorder
Achromatopsia
First reported 2009
Supporting publications 2
Key publication · gene–disorder A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.Proceedings of the National Academy of Sciences of the United States of America · 2009
Key publication · disorder [Investigations on the classification of "incomplete" congenital achromatopsia; a form intermediate between congenital achromatopsia and protanopia].Albrecht von Graefe's Archiv fur Ophthalmologie · 1950
Manually curated
Association Review

In brief

The association between PDE6C (Phosphodiesterase 6C) and Achromatopsia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 102
Symptoms 20
Compounds 0
Trials 0
Publications 2
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

3 sources

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

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03
PDE6C

The gene

2 source summaries

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

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04
Achromatopsia

The disorder

12 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

20 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

102 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

2 publications

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

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09
Provenance

References & sources

9 references

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

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