Genopathy
Gene-Disorder Association · Article
Gene
TOP2B
DNA Topoisomerase II Beta
Disorder
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
First reported 2004
Supporting publications 7
Key publication · gene–disorder Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.Clinical genetics · 2004
Key publication · disorder [SOME CLINICAL AND PATHOGENETIC CONSIDERATIONS ON THE HOFFMAN SYNDROME (MYXEDEMATOUS MYOTONIA). DESCRIPTION OF A CASE].Folia endocrinologica · 1964
Manually curated
Association Review

In brief

The association between TOP2B (DNA Topoisomerase II Beta) and B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 16
Symptoms 47
Compounds 0
Trials 0
Publications 7
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

5 sources

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

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03
TOP2B

The gene

2 source summaries

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

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04
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations

The disorder

10 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

1 clinical feature

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

16 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

7 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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