Genopathy
Gene-Disorder Association · Article
Gene
CHROMR
Cholesterol Induced Regulator Of Metabolism RNA
Disorder
Dystonia 16
First reported 2008
Supporting publications 6
Key publication · gene–disorder DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.The Lancet. Neurology · 2008
Key publication · disorder [Two siblings of juvenile Parkinson's disease dystonic type (Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa)].Rinsho shinkeigaku = Clinical neurology · 1989
Manually curated
Association Review

In brief

The association between CHROMR (Cholesterol Induced Regulator Of Metabolism RNA) and Dystonia 16 is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 50
Symptoms 40
Compounds 0
Trials 0
Publications 6
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
CHROMR

The gene

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

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04
Dystonia 16

The disorder

11 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

25 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

50 clinical variants

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

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07
Literature

Reading

6 publications

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

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08
Provenance

References & sources

12 references

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

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