Spondyloepimetaphyseal dysplasia, Strudwick type: genes and variants
Spondyloepimetaphyseal dysplasia, Strudwick type is linked to 1 analyzed protein (COL2A1). 18 DNA variants are known to cause it; 0 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 Spondyloepimetaphyseal dysplasia, Strudwick type
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.
18 disease-causing and 0 uncertain variants in COL2A1 are linked to Spondyloepimetaphyseal dysplasia, Strudwick type.
Known disease-causing variants in Spondyloepimetaphyseal dysplasia, Strudwick type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL2A1 G348D | 348 | Triple-helical region | Disease-causing (★★) |
| COL2A1 G594R | 594 | Triple-helical region | Disease-causing (★★) |
| COL2A1 G597R | 597 | Triple-helical region | Disease-causing (★★) |
| COL2A1 G666R | 666 | Triple-helical region | Disease-causing (★★) |
| COL2A1 G1197S | 1197 | Triple-helical region | Disease-causing (★★) |
| COL2A1 G351R | 351 | Triple-helical region | Disease-causing (★) |
| COL2A1 G909S | 909 | Triple-helical region | Disease-causing (★) |
| COL2A1 G450R | 450 | Triple-helical region | Disease-causing (★) |
| COL2A1 G516D | 516 | Triple-helical region | Disease-causing (★) |
| COL2A1 G525S | 525 | Triple-helical region | Disease-causing (★) |
| COL2A1 G585D | 585 | Triple-helical region | Disease-causing (★) |
| COL2A1 G1185E | 1185 | Triple-helical region | Disease-causing (★) |
| COL2A1 G414R | 414 | Triple-helical region | Disease-causing (★) |
| COL2A1 G456S | 456 | Triple-helical region | Disease-causing (★) |
| COL2A1 G840S | 840 | Triple-helical region | Disease-causing (★) |
| COL2A1 G909C | 909 | Triple-helical region | Disease-causing |
| COL2A1 G354R | 354 | Triple-helical region | Disease-causing |
| COL2A1 G492V | 492 | Triple-helical region | Disease-causing |
Which prediction tools work for Spondyloepimetaphyseal dysplasia, Strudwick type
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaMissense: 100 out of 100
- EVE: 100 out of 100
- MetaLR: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MutPred2: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 94 out of 100
Same protein, different disease
- Spondyloepiphyseal dysplasia congenita is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepimetaphyseal dysplasia, Strudwick type variants (38 disease-causing).
- Achondrogenesis type II is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepimetaphyseal dysplasia, Strudwick type variants (34 disease-causing).
- Stickler syndrome is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepimetaphyseal dysplasia, Strudwick type variants (26 disease-causing).
- Connective tissue disorder is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepimetaphyseal dysplasia, Strudwick type variants (15 disease-causing).
- Type 2 collagenopathy is also caused by COL2A1 variants; they fall mostly in different places as the Spondyloepimetaphyseal dysplasia, Strudwick type variants (14 disease-causing).
Diseases related to Spondyloepimetaphyseal dysplasia, Strudwick type
- 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
- 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
- Paediatric disorders, also linked to COL2A1
Frequently asked questions
Which genes are linked to Spondyloepimetaphyseal dysplasia, Strudwick type?
In CATVariant, Spondyloepimetaphyseal dysplasia, Strudwick type is linked to 1 analyzed protein: COL2A1 (Collagen alpha-1(II) chain).
How many genetic variants are linked to Spondyloepimetaphyseal dysplasia, Strudwick type?
27 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Spondyloepimetaphyseal dysplasia, Strudwick type look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Spondyloepimetaphyseal dysplasia, Strudwick type?
Among tools not trained on clinical labels, AlphaMissense separates this disease's known disease-causing variants from harmless ones best (AUROC 1.00, based on 15 disease-causing and 9 harmless variants).
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.
Download every variant as CSV · Browse all diseases · Methods · About the Center