Genopathy
Gene-Disorder Association · Article
Gene
CHRNG
Cholinergic Receptor Nicotinic Gamma Subunit
Disorder
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1b
First reported 2005
Supporting publications 9
Key publication · gene–disorder Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.American journal of medical genetics. Part A · 2005
Key publication · disorder Skeletal muscle involvement in Escobar syndrome.Brain & development · 1985
Manually curated
Association Review

In brief

The association between CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit) and Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1b is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 142
Symptoms 83
Compounds 0
Trials 0
Publications 9
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
CHRNG

The gene

1 source summary

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

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04
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1b

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

71 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

142 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

9 publications

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

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09
Provenance

References & sources

15 references

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

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