Atelosteogenesis type I: genes and variants
Atelosteogenesis type I is linked to 1 analyzed protein (FLNB). 6 DNA variants are known to cause it; 41 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: atelosteogenesis type III
Genes linked to Atelosteogenesis type I
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.
6 disease-causing and 41 uncertain variants in FLNB are linked to Atelosteogenesis type I.
Where Atelosteogenesis type I variants cluster
- FLNB Calponin-homology (CH) 2 (positions 139–242): 3 of 6 disease-causing changes, 12.5× more than its size predicts.
Known disease-causing variants in Atelosteogenesis type I
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FLNB G1691S | 1691 | Filamin 15 | Disease-causing (★★) |
| FLNB I215N | 215 | Calponin-homology (CH) 2 | Disease-causing (★) |
| FLNB P1603S | 1603 | Filamin 14 | Disease-causing (★) |
| FLNB G580V | 580 | Filamin 4 | Disease-causing (★) |
| FLNB A173T | 173 | Calponin-homology (CH) 2 | Disease-causing |
| FLNB M202V | 202 | 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 Atelosteogenesis type I variants (12 disease-causing).
Diseases related to Atelosteogenesis type I
- Connective tissue disorder, also linked to FLNB
- Larsen syndrome, also linked to FLNB
- Boomerang dysplasia, also linked to FLNB
- Spondylocarpotarsal synostosis syndrome, also linked to FLNB
Frequently asked questions
Which genes are linked to Atelosteogenesis type I?
In CATVariant, Atelosteogenesis type I is linked to 1 analyzed protein: FLNB (Filamin-B).
How many genetic variants are linked to Atelosteogenesis type I?
66 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 41 are of uncertain significance or have conflicting reports.
Which uncertain variants in Atelosteogenesis type I 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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