Genopathy
Gene-Disorder Association · Article
Gene
POU4F1
POU Class 4 Homeobox 1
Disorder
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
First reported 1979
Supporting publications 1
Key publication · disorder Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.Journal of medical genetics · 1979
Manually curated
Association Review

In brief

The association between POU4F1 (POU Class 4 Homeobox 1) and Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 1
Symptoms 124
Compounds 0
Trials 0
Publications 1
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
POU4F1

The gene

1 source summary

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

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04
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities

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

78 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

1 clinical variant

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

1 publication

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

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09
Provenance

References & sources

8 references

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

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