Spondyloepiphyseal dysplasia with metatarsal shortening: genes and variants
Spondyloepiphyseal dysplasia with metatarsal shortening is linked to 1 analyzed protein (COL2A1). 3 DNA variants are known to cause it; 6 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Spondyloepiphyseal dysplasia with metatarsal shortening
COL2A1: Collagen alpha-1(II) chain
It provides the principal fibrillar collagen framework of cartilage and is also important in the vitreous and inner ear. Pathogenic variants cause a broad type II collagenopathy spectrum including Stickler syndrome, spondyloepiphyseal dysplasia, and severe skeletal dysplasias.
3 disease-causing and 6 uncertain variants in COL2A1 are linked to Spondyloepiphyseal dysplasia with metatarsal shortening.
Known disease-causing variants in Spondyloepiphyseal dysplasia with metatarsal shortening
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL2A1 G207R | 207 | Triple-helical region | Disease-causing (★★) |
| COL2A1 M1V | 1 | Disease-causing (★★) | |
| COL2A1 P917L | 917 | Triple-helical region | Disease-causing (★) |
Same protein, different disease
- Spondyloepiphyseal dysplasia congenita is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepiphyseal dysplasia with metatarsal shortening variants (38 disease-causing).
- Achondrogenesis type II is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepiphyseal dysplasia with metatarsal shortening variants (34 disease-causing).
- Stickler syndrome is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepiphyseal dysplasia with metatarsal shortening variants (26 disease-causing).
- Spondyloepimetaphyseal dysplasia, Strudwick type is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepiphyseal dysplasia with metatarsal shortening variants (18 disease-causing).
- Connective tissue disorder is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepiphyseal dysplasia with metatarsal shortening variants (15 disease-causing).
Diseases related to Spondyloepiphyseal dysplasia with metatarsal shortening
- Spondyloepiphyseal dysplasia congenita, also linked to COL2A1
- Achondrogenesis type II, also linked to COL2A1
- Stickler syndrome, also linked to COL2A1
- Connective tissue disorder, also linked to COL2A1
- Spondyloepimetaphyseal dysplasia, Strudwick type, also linked to COL2A1
- Type 2 collagenopathy, also linked to COL2A1
- Spondyloperipheral dysplasia, also linked to COL2A1
- Fetal anomalies with a likely genetic cause, also linked to COL2A1
- Spondyloepiphyseal dysplasia, Stanescu type, also linked to COL2A1
- Platyspondylic dysplasia, Torrance type, also linked to COL2A1
- Kniest dysplasia, also linked to COL2A1
- Stickler syndrome, type I, nonsyndromic ocular, also linked to COL2A1
Frequently asked questions
Which genes are linked to Spondyloepiphyseal dysplasia with metatarsal shortening?
In CATVariant, Spondyloepiphyseal dysplasia with metatarsal shortening is linked to 1 analyzed protein: COL2A1 (Collagen alpha-1(II) chain).
How many genetic variants are linked to Spondyloepiphyseal dysplasia with metatarsal shortening?
15 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Spondyloepiphyseal dysplasia with metatarsal shortening look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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