Genopathy
Gene-Disorder Association · Article
Gene
AP4B1-AS1
AP4B1 Antisense RNA 1
Disorder
Spastic Paraplegia 47, Autosomal Recessive
First reported 2011
Supporting publications 10
Key publication · gene–disorder A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.Journal of the neurological sciences · 2011
Key publication · disorder Splicing in action: assessing disease causing sequence changes.Journal of medical genetics · 2005
Manually curated
Association Review

In brief

The association between AP4B1-AS1 (AP4B1 Antisense RNA 1) and Spastic Paraplegia 47, Autosomal Recessive is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 204
Symptoms 61
Compounds 0
Trials 0
Publications 10
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
AP4B1-AS1

The gene

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

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04
Spastic Paraplegia 47, Autosomal Recessive

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

35 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

204 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

10 publications

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

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08
Provenance

References & sources

12 references

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

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