Donnai-Barrow syndrome: genes and variants
Donnai-Barrow syndrome is linked to 1 analyzed protein (LRP2). 5 DNA variants are known to cause it; 665 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 Donnai-Barrow syndrome
LRP2: Low-density lipoprotein receptor-related protein 2
It mediates endocytic uptake of filtered proteins, vitamins, hormones, and other ligands in proximal renal tubules and several absorptive epithelia. Biallelic loss-of-function variants cause Donnai-Barrow syndrome with proteinuria, craniofacial abnormalities, and neurodevelopmental features.
5 disease-causing and 665 uncertain variants in LRP2 are linked to Donnai-Barrow syndrome.
Known disease-causing variants in Donnai-Barrow syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LRP2 Y2522H | 2522 | LDL-receptor class B 25 | Disease-causing (★★) |
| LRP2 D3828G | 3828 | LDL-receptor class A 33 | Disease-causing (★) |
| LRP2 C286F | 286 | LDL-receptor class A 7 | Disease-causing |
| LRP2 P4208H | 4208 | LDL-receptor class B 34 | Disease-causing |
| LRP2 R3192Q | 3192 | EGF-like 4 | Disease-causing |
Frequently asked questions
Which genes are linked to Donnai-Barrow syndrome?
In CATVariant, Donnai-Barrow syndrome is linked to 1 analyzed protein: LRP2 (Low-density lipoprotein receptor-related protein 2).
How many genetic variants are linked to Donnai-Barrow syndrome?
736 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 665 are of uncertain significance or have conflicting reports.
Which uncertain variants in Donnai-Barrow 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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