Reynolds syndrome: genes and variants
Reynolds syndrome is linked to 1 analyzed protein (LBR). 1 DNA variants are known to cause it; 3 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 Reynolds syndrome
LBR: Delta(14)-sterol reductase LBR
An inner nuclear-membrane protein with sterol-reductase activity in the cholesterol-biosynthesis pathway. It also contributes to nuclear-envelope organization and myeloid-cell maturation, and LBR variants are associated with Pelger-Huet anomaly and skeletal dysplasia.
1 disease-causing and 3 uncertain variants in LBR are linked to Reynolds syndrome.
Known disease-causing variants in Reynolds syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LBR R586H | 586 | Disease-causing |
Same protein, different disease
- Greenberg dysplasia is also caused by LBR variants; they fall mostly in different places as the Reynolds syndrome variants (4 disease-causing).
Diseases related to Reynolds syndrome
- Connective tissue disorder, also linked to LBR
- Greenberg dysplasia, also linked to LBR
- Pelger-Huët anomaly, also linked to LBR
- Regressive spondylometaphyseal dysplasia, also linked to LBR
Frequently asked questions
Which genes are linked to Reynolds syndrome?
In CATVariant, Reynolds syndrome is linked to 1 analyzed protein: LBR (Delta(14)-sterol reductase LBR).
How many genetic variants are linked to Reynolds syndrome?
8 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Reynolds 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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