Genopathy
Gene-Disorder Association · Article
Gene
BBS10
Bardet-Biedl Syndrome 10
Disorder
Bardet-Biedl Syndrome
First reported 2006
Supporting publications 68
Key publication · gene–disorder BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.Nature genetics · 2006
Key publication · disorder [Laurence-Moon-Bardet-Biedl syndrome].Revue d'oto-neuro-ophtalmologie · 1950
Manually curated
Association Review

In brief

The association between BBS10 (Bardet-Biedl Syndrome 10) and Bardet-Biedl Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 729
Symptoms 97
Compounds 0
Trials 0
Publications 68
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

3 sources

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

Request access
03
BBS10

The gene

1 source summary

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

Request access
04
Bardet-Biedl Syndrome

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

95 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

729 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

2 shared pathways

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

Request access
08
Literature

Reading

68 publications

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

Request access
09
Provenance

References & sources

18 references

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

Request access