Genopathy
Gene-Disorder Association · Article
Gene
ALS2
Alsin Rho Guanine Nucleotide Exchange Factor ALS2
Disorder
Primary Lateral Sclerosis, Juvenile
First reported 2001
Supporting publications 5
Key publication · gene–disorder The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.Nature genetics · 2001
Key publication · disorder T-cell clones specific for myelin basic protein induce chronic relapsing paralysis and demyelination.Nature · 1985
Manually curated
Association Review

In brief

The association between ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2) and Primary Lateral Sclerosis, Juvenile is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 32
Symptoms 39
Compounds 0
Trials 0
Publications 5
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
ALS2

The gene

1 source summary

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

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04
Primary Lateral Sclerosis, Juvenile

The disorder

8 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

27 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

32 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

5 publications

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

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09
Provenance

References & sources

13 references

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

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