BBS2
Universal Cellular Machinery · Cilium Assembly & Centrosomal Organization
How can BBS2-related biology involve both eyes and kidneys?
BBS2 makes a protein involved in the ciliary system used by many tissues. Because cilia support functions across the body, certain disease-causing variants can have effects in multiple organs.
- Common Gene Name
- Bardet-Biedl syndrome 2
- NCBI Gene ID
- 583
- Chromosome
- 16
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (1 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| BBS2-related ciliopathy | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2024-03-07 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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