Genopathy
Gene-Disorder Association · Article
Gene
POLR3B
RNA Polymerase III Subunit B
Disorder
Hypogonadotropic Hypogonadism
First reported 2017
Key publication · gene–disorder Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.Journal of medical genetics · 2017
Key publication · disorder Dystrophia myotonica, with special reference to endocrine function (Klinefelter's syndrome).The Journal of clinical endocrinology and metabolism · 1950
Manually curated
Association Review

In brief

The association between POLR3B (RNA Polymerase III Subunit B) and Hypogonadotropic Hypogonadism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 4
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
POLR3B

The gene

1 source summary

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

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04
Hypogonadotropic Hypogonadism

The disorder

13 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

4 clinical variants

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

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06
Provenance

References & sources

3 references

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

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