Spondylocarpotarsal synostosis syndrome: genes and variants
Spondylocarpotarsal synostosis syndrome is linked to 1 analyzed protein (FLNB). 1 DNA variants are known to cause it; 20 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 Spondylocarpotarsal synostosis syndrome
FLNB: Filamin-B
It crosslinks actin and organizes cytoskeletal signaling in cartilage, bone, and other tissues during development. Pathogenic variants cause a broad skeletal-dysplasia spectrum including atelosteogenesis, Larsen syndrome, and spondylocarpotarsal syndrome.
1 disease-causing and 20 uncertain variants in FLNB are linked to Spondylocarpotarsal synostosis syndrome.
Known disease-causing variants in Spondylocarpotarsal synostosis syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FLNB G168S | 168 | Calponin-homology (CH) 2 | Disease-causing (★★) |
Same protein, different disease
- Larsen syndrome is also caused by FLNB variants; they fall mostly in different places as the Spondylocarpotarsal synostosis syndrome variants (12 disease-causing).
- Atelosteogenesis type I is also caused by FLNB variants; they fall mostly in different places as the Spondylocarpotarsal synostosis syndrome variants (6 disease-causing).
- Boomerang dysplasia is also caused by FLNB variants; they fall mostly in different places as the Spondylocarpotarsal synostosis syndrome variants (3 disease-causing).
Diseases related to Spondylocarpotarsal synostosis syndrome
- Connective tissue disorder, also linked to FLNB
- Larsen syndrome, also linked to FLNB
- Atelosteogenesis type I, also linked to FLNB
- Boomerang dysplasia, also linked to FLNB
Frequently asked questions
Which genes are linked to Spondylocarpotarsal synostosis syndrome?
In CATVariant, Spondylocarpotarsal synostosis syndrome is linked to 1 analyzed protein: FLNB (Filamin-B).
How many genetic variants are linked to Spondylocarpotarsal synostosis syndrome?
36 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 20 are of uncertain significance or have conflicting reports.
Which uncertain variants in Spondylocarpotarsal synostosis syndrome 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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