COL2A1
Musculoskeletal System · Chondrogenesis & Articular Cartilage Stability
Why can a cartilage gene also be relevant to eyes and hearing?
COL2A1 produces the building block of type II collagen. This collagen supports not only cartilage but also structures involved in normal eye and inner-ear development.
- Common Gene Name
- collagen type II alpha 1 chain
- NCBI Gene ID
- 1280
- Chromosome
- 12
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 (12 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| COL2A1-related spondyloepiphyseal dysplasia | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2021-12-06 |
| achondrogenesis type II | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2020-10-05 |
| Kniest dysplasia | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2021-12-15 |
| Stickler syndrome type 1 | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2023-09-28 |
| dysplasia of the proximal femoral epiphyses | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2024-08-06 |
| platyspondylic dysplasia, Torrance type | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2021-02-01 |
| spondyloperipheral dysplasia | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2023-09-28 |
| Stickler syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2024-12 | |
| Spondyloepiphyseal dysplasia congenita | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2024-12 | |
| Spondyloepiphyseal dysplasia with marked metaphyseal changes | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2024-12 | |
| Achondrogenesis | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2024-12 | |
| Spondyloepiphyseal dysplasia with metatarsal shortening | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2024-12 |
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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