BBS1

Chr 11

Bardet-Biedl syndrome 1

Also known as: BBS2L2

NCBI Gene: 582ENSG00000174483UniProt: Q8NFJ9

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBardet-Biedl syndrome 1

Clinical highlights

Gene-disease validity (ClinGen)
BBS1-related ciliopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
31
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
LOF
Mechanism· G2P
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GeneReview available — BBS1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.000
Z-score 1.64
OE 0.69 (0.50–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.16Z-score
OE missense 0.98 (0.89–1.07)
335 obs / 343.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.50–0.98)
0≤0.351.4
Missense OE?0.98 (0.89–1.07)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 23 / 33.2Missense obs/exp: 335 / 343.1Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BBS1 · protein map & ClinVar variants

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

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