Multiple epiphyseal dysplasia, Beighton type: genes and variants
Multiple epiphyseal dysplasia, Beighton type is linked to 1 analyzed protein (COL2A1). 6 DNA variants are known to cause it; 11 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 Multiple epiphyseal dysplasia, Beighton 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.
6 disease-causing and 11 uncertain variants in COL2A1 are linked to Multiple epiphyseal dysplasia, Beighton type.
Known disease-causing variants in Multiple epiphyseal dysplasia, Beighton type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL2A1 G504S | 504 | Triple-helical region | Disease-causing (★★) |
| COL2A1 M1V | 1 | Disease-causing (★★) | |
| COL2A1 G1029C | 1029 | Triple-helical region | Disease-causing (★★) |
| COL2A1 A302V | 302 | Triple-helical region | Disease-causing (★★) |
| COL2A1 G945R | 945 | Triple-helical region | Disease-causing (★) |
| COL2A1 G1014R | 1014 | 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 Multiple epiphyseal dysplasia, Beighton type variants (38 disease-causing).
- Achondrogenesis type II is also caused by COL2A1 variants; they fall mostly in different places as the Multiple epiphyseal dysplasia, Beighton type variants (34 disease-causing).
- Stickler syndrome is also caused by COL2A1 variants; they fall mostly in different places as the Multiple epiphyseal dysplasia, Beighton type variants (26 disease-causing).
- Spondyloepimetaphyseal dysplasia, Strudwick type is also caused by COL2A1 variants; they fall mostly in different places as the Multiple epiphyseal dysplasia, Beighton type variants (18 disease-causing).
- Connective tissue disorder is also caused by COL2A1 variants; they fall mostly in different places as the Multiple epiphyseal dysplasia, Beighton type variants (15 disease-causing).
Diseases related to Multiple epiphyseal dysplasia, Beighton 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
- 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 Multiple epiphyseal dysplasia, Beighton type?
In CATVariant, Multiple epiphyseal dysplasia, Beighton type is linked to 1 analyzed protein: COL2A1 (Collagen alpha-1(II) chain).
How many genetic variants are linked to Multiple epiphyseal dysplasia, Beighton type?
24 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Multiple epiphyseal dysplasia, Beighton type 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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