Genopathy
Gene-Disorder Association · Article
Gene
PACSIN3
Protein Kinase C And Casein Kinase Substrate In Neurons 3
Disorder
Congenital Myopathy 27
First reported 1978
Key publication · disorder Nemaline myopathy: histological, histochemical and ultrastructural studies.Acta neuropathologica · 1978
Manually curated
Association Review

In brief

The association between PACSIN3 (Protein Kinase C And Casein Kinase Substrate In Neurons 3) and Congenital Myopathy 27 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

Sources 1
Clinical variants 0
Symptoms 29
Compounds 0
Trials 0
Publications 0
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
PACSIN3

The gene

1 source summary

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

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04
Congenital Myopathy 27

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
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
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

3 references

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

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