Genopathy
Gene-Disorder Association · Article
Gene
CHCHD10
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10
Disorder
Lower Motor Neuron Syndrome With Late-Adult Onset
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 Lower Motor Neuron Syndrome With Late-Adult Onset is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

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.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
CHCHD10

The gene

1 source summary

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

Request access
04
Lower Motor Neuron Syndrome With Late-Adult Onset

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

26 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
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.

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

18 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access