Genopathy
Gene-Disorder Association · Article
Gene
PSMB8
Proteasome 20S Subunit Beta 8
Disorder
Proteosome-Associated Autoinflammatory Syndrome
First reported 2010
Supporting publications 10
Key publication · gene–disorder PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.American journal of human genetics · 2010
Key publication · disorder Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.Internal medicine (Tokyo, Japan) · 1993
Manually curated
Association Review

In brief

The association between PSMB8 (Proteasome 20S Subunit Beta 8) and Proteosome-Associated Autoinflammatory Syndrome is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 212
Symptoms 3
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

2 sources

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

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03
PSMB8

The gene

1 source summary

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

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04
Proteosome-Associated Autoinflammatory Syndrome

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
ClinVar and variant evidence

Genetic basis

212 clinical variants

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

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06
Literature

Reading

10 publications

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

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07
Provenance

References & sources

13 references

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

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