Boomerang dysplasia: genes and variants
Boomerang dysplasia is linked to 1 analyzed protein (FLNB). 3 DNA variants are known to cause it; 13 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 Boomerang dysplasia
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.
3 disease-causing and 13 uncertain variants in FLNB are linked to Boomerang dysplasia.
Known disease-causing variants in Boomerang dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FLNB G1691S | 1691 | Filamin 15 | Disease-causing (★★) |
| FLNB L171R | 171 | Calponin-homology (CH) 2 | Disease-causing |
| FLNB S235P | 235 | 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 Boomerang dysplasia variants (12 disease-causing).
- Atelosteogenesis type I is also caused by FLNB variants; they fall mostly in different places as the Boomerang dysplasia variants (6 disease-causing).
Diseases related to Boomerang dysplasia
- Connective tissue disorder, also linked to FLNB
- Larsen syndrome, also linked to FLNB
- Atelosteogenesis type I, also linked to FLNB
- Spondylocarpotarsal synostosis syndrome, also linked to FLNB
Frequently asked questions
Which genes are linked to Boomerang dysplasia?
In CATVariant, Boomerang dysplasia is linked to 1 analyzed protein: FLNB (Filamin-B).
How many genetic variants are linked to Boomerang dysplasia?
24 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Boomerang dysplasia 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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