Genopathy
Gene-Disorder Association · Article
Gene
CHCHD10
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10
Disorder
Spinal Muscular Atrophy, Jokela Type
First reported 2012
Supporting publications 18
Key publication · gene–disorder Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.European journal of human genetics : EJHG · 2012
Key publication · disorder Late-onset lower motor neuronopathy: a new autosomal dominant disorder.Neurology · 2011
Manually curated
Association Review

In brief

The association between CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10) and Spinal Muscular Atrophy, Jokela Type is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 198
Symptoms 29
Compounds 0
Trials 0
Publications 18
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
CHCHD10

The gene

1 source summary

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

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04
Spinal Muscular Atrophy, Jokela Type

The disorder

7 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

15 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

198 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

18 publications

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

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09
Provenance

References & sources

14 references

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

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