Genopathy
Gene-Disorder Association · Article
Gene
SMCHD1
Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1
Disorder
Facioscapulohumeral Muscular Dystrophy 2, Digenic
First reported 2012
Supporting publications 17
Key publication · gene–disorder Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.Nature genetics · 2012
Key publication · disorder Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).American journal of human genetics · 1993
Manually curated
Association Review

In brief

The association between SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1) and Facioscapulohumeral Muscular Dystrophy 2, Digenic is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 1,155
Symptoms 15
Compounds 0
Trials 0
Publications 17
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

4 sources

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

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03
SMCHD1

The gene

1 source summary

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

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04
Facioscapulohumeral Muscular Dystrophy 2, Digenic

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

7 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

1,155 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

17 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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