Genopathy
Gene-Disorder Association · Article
Gene
POLR3GL
RNA Polymerase III Subunit GL
Disorder
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
First reported 1989
Supporting publications 2
Key publication · disorder Culture of sheep zygotes in synthetic oviduct fluid medium with different concentrations of sodium bicarbonate and HEPES.Theriogenology · 1989
Manually curated
Association Review

In brief

The association between POLR3GL (RNA Polymerase III Subunit GL) and Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 3
Symptoms 79
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

2 sources

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

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03
POLR3GL

The gene

1 source summary

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

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04
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay

The disorder

5 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

33 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

3 clinical variants

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

2 publications

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

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09
Provenance

References & sources

6 references

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

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