Genopathy
Gene-Disorder Association · Article
Gene
FXR1
FMR1 Autosomal Homolog 1
Disorder
Congenital Myopathy 9b, Proximal, With Minicore Lesions
First reported 2019
Supporting publications 2
Key publication · disorder Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.Nature communications · 2019
Manually curated
Association Review

In brief

The association between FXR1 (FMR1 Autosomal Homolog 1) and Congenital Myopathy 9b, Proximal, With Minicore Lesions is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 4
Symptoms 40
Compounds 0
Trials 0
Publications 2
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
FXR1

The gene

1 source summary

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

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04
Congenital Myopathy 9b, Proximal, With Minicore Lesions

The disorder

6 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

4 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

2 publications

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

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09
Provenance

References & sources

7 references

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

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