Genopathy
Gene-Disorder Association · Article
Gene
STON1-GTF2A1L
STON1-GTF2A1L Readthrough
Disorder
Precocious Puberty, Male-Limited
First reported 1993
Supporting publications 22
Key publication · gene–disorder A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.Nature · 1993
Key publication · disorder [Hyperplastic malformation of the tuber cinereum with precocious puberty].Deutsche Zeitschrift fur Nervenheilkunde · 1950
Manually curated
Association Review

In brief

The association between STON1-GTF2A1L (STON1-GTF2A1L Readthrough) and Precocious Puberty, Male-Limited is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 85
Symptoms 21
Compounds 0
Trials 0
Publications 22
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
STON1-GTF2A1L

The gene

1 source summary

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

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04
Precocious Puberty, Male-Limited

The disorder

14 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

13 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

85 clinical variants

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

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07
Literature

Reading

22 publications

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

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08
Provenance

References & sources

15 references

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

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