Genopathy
Gene-Disorder Association · Article
Gene
BUB1B
BUB1 Mitotic Checkpoint Serine/Threonine Kinase B
Disorder
Mosaic Variegated Aneuploidy Syndrome
First reported 2006
Supporting publications 12
Key publication · gene–disorder Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.American journal of medical genetics. Part A · 2006
Key publication · disorder Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.American journal of medical genetics · 1999
Manually curated
Association Review

In brief

The association between BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B) and Mosaic Variegated Aneuploidy Syndrome is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 923
Symptoms 65
Compounds 0
Trials 0
Publications 12
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
BUB1B

The gene

1 source summary

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

Request access
04
Mosaic Variegated Aneuploidy Syndrome

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

64 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

923 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

12 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access