Genopathy
Gene-Disorder Association · Article
Gene
WASHC5-AS1
WASHC5 Antisense RNA 1
Disorder
Spastic Paraplegia 8, Autosomal Dominant
First reported 1991
Supporting publications 3
Key publication · disorder [Congenital autosomal-recessive familial spastic paraplegia].Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952) · 1991
Association Review

In brief

The association between WASHC5-AS1 (WASHC5 Antisense RNA 1) and Spastic Paraplegia 8, Autosomal Dominant is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 40
Symptoms 37
Compounds 0
Trials 0
Publications 3
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

1 source

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

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03
WASHC5-AS1

The gene

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

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04
Spastic Paraplegia 8, Autosomal Dominant

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

29 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

40 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

9 references

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

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