Short-rib thoracic dysplasia 10 with or without polydactyly: genes and variants
Short-rib thoracic dysplasia 10 with or without polydactyly is linked to 1 analyzed protein (IFT172). 6 DNA variants are known to cause it; 616 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 Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172: Intraflagellar transport protein 172 homolog
It supports intraflagellar transport required for assembly and maintenance of primary and sensory cilia. Biallelic pathogenic variants cause ciliopathies that can involve retinal degeneration, skeletal abnormalities, kidney disease, or Joubert-spectrum neurologic findings.
6 disease-causing and 616 uncertain variants in IFT172 are linked to Short-rib thoracic dysplasia 10 with or without polydactyly.
Known disease-causing variants in Short-rib thoracic dysplasia 10 with or without polydactyly
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IFT172 H1567Q | 1567 | Disease-causing (★★) | |
| IFT172 T1623I | 1623 | Disease-causing (★★) | |
| IFT172 R1544C | 1544 | Disease-causing (★★) | |
| IFT172 C1727R | 1727 | Disease-causing (★★) | |
| IFT172 Y1578C | 1578 | TPR 14 | Disease-causing (★) |
| IFT172 I411N | 411 | Disease-causing |
Diseases related to Short-rib thoracic dysplasia 10 with or without polydactyly
- Retinitis pigmentosa, also linked to IFT172
- Bardet-Biedl syndrome, also linked to IFT172
Frequently asked questions
Which genes are linked to Short-rib thoracic dysplasia 10 with or without polydactyly?
In CATVariant, Short-rib thoracic dysplasia 10 with or without polydactyly is linked to 1 analyzed protein: IFT172 (Intraflagellar transport protein 172 homolog).
How many genetic variants are linked to Short-rib thoracic dysplasia 10 with or without polydactyly?
669 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 616 are of uncertain significance or have conflicting reports.
Which uncertain variants in Short-rib thoracic dysplasia 10 with or without polydactyly 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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