BBS12

Chr 4AR

Bardet-Biedl syndrome 12

Also known as: C4orf24

NCBI Gene: 166379ENSG00000181004UniProt: Q6ZW61

The protein functions as a molecular chaperone within the chaperonin-containing T-complex (TRiC), facilitating protein folding through ATP hydrolysis and playing a role in ciliogenesis and adipocyte differentiation. Mutations cause Bardet-Biedl syndrome type 12, a multisystem ciliopathy affecting the eyes, kidneys, genitourinary system, and causing obesity and polydactyly. The condition follows autosomal recessive inheritance.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

Bardet-Biedl syndrome 12MIM #615989
AR
Bardet-Biedl syndrome 12MIM #615989
AR
1
Active trials
5
Pubs (1 yr)
142
P/LP submissions
3%
P/LP missense
0.96
LOEUF
LOF
Mechanism· G2P
Clinical Summary— BBS12
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Gene-Disease Validity (ClinGen)
BBS12-related ciliopathy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
111 unique Pathogenic / Likely Pathogenic· 231 VUS of 500 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — BBS12
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.96LOEUF
pLI 0.000
Z-score 1.70
OE 0.62 (0.41–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.34Z-score
OE missense 0.95 (0.87–1.04)
348 obs / 366.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.62 (0.41–0.96)
0≤0.351.4
Missense OE0.95 (0.87–1.04)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 14 / 22.7Missense obs/exp: 348 / 366.1Syn Z: 1.13

ClinVar Variant Classifications

500 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic60
Likely Pathogenic51
VUS231
Likely Benign148
Benign2
Conflicting8
60
Pathogenic
51
Likely Pathogenic
231
VUS
148
Likely Benign
2
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
36
1
23
0
60
Likely Pathogenic
30
2
19
0
51
VUS
0
222
6
3
231
Likely Benign
0
4
2
142
148
Benign
0
0
2
0
2
Conflicting
—8
Total6622952145500

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BBS12 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients