Genopathy
Gene-Disorder Association · Article
Gene
COL6A3
Collagen Type VI Alpha 3 Chain
Disorder
Dystonia 27
First reported 2015
Supporting publications 8
Key publication · gene–disorder Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.American journal of human genetics · 2015
Key publication · disorder [Spinocerebellar ataxia 1--clinical study of 17 patients in a large pedigree].No to shinkei = Brain and nerve · 1993
Manually curated
Association Review

In brief

The association between COL6A3 (Collagen Type VI Alpha 3 Chain) and Dystonia 27 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 92
Symptoms 14
Compounds 0
Trials 0
Publications 8
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

5 sources

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

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03
COL6A3

The gene

1 source summary

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

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04
Dystonia 27

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

92 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

8 publications

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

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09
Provenance

References & sources

16 references

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

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