Genopathy
Gene-Disorder Association · Article
Gene
LGI4
Leucine Rich Repeat LGI Family Member 4
Disorder
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
First reported 1989
Supporting publications 1
Key publication · disorder A direct selection procedure for isolating yeast mutants with an impaired segregation of artificial minichromosomes.Current genetics · 1989
Manually curated
Association Review

In brief

The association between LGI4 (Leucine Rich Repeat LGI Family Member 4) and Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 31
Symptoms 48
Compounds 0
Trials 0
Publications 1
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
LGI4

The gene

1 source summary

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

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04
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect

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

28 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

31 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

1 publication

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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