Genopathy
Gene-Disorder Association · Article
Gene
PSMD12
Proteasome 26S Subunit, Non-ATPase 12
Disorder
17q24.2 Microdeletion Syndrome
First reported 2017
Supporting publications 2
Key publication · disorder Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly.Case reports in genetics · 2017
Manually curated
Association Review

In brief

The association between PSMD12 (Proteasome 26S Subunit, Non-ATPase 12) and 17q24.2 Microdeletion Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 49
Compounds 0
Trials 0
Publications 2
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
PSMD12

The gene

1 source summary

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

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04
17q24.2 Microdeletion Syndrome

The disorder

4 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

47 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Literature

Reading

2 publications

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

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08
Provenance

References & sources

6 references

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

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