Bohring-Opitz syndrome: genes and variants
Bohring-Opitz syndrome is linked to 1 analyzed protein (ASXL1). 2 DNA variants are known to cause it; 33 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 Bohring-Opitz syndrome
ASXL1: Polycomb group protein ASXL1
It regulates developmental and hematopoietic transcription through interactions with Polycomb and other chromatin-modifying systems. Somatic truncating variants are common in clonal hematopoiesis and myeloid malignancies, while germline pathogenic variants cause Bohring-Opitz syndrome.
2 disease-causing and 33 uncertain variants in ASXL1 are linked to Bohring-Opitz syndrome.
Known disease-causing variants in Bohring-Opitz syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ASXL1 I574V | 574 | Interaction with NCOA1 | Disease-causing |
| ASXL1 A215T | 215 | Disease-causing |
Diseases related to Bohring-Opitz syndrome
- Acute myeloid leukemia, also linked to ASXL1
- Myelodysplastic syndrome, also linked to ASXL1
Frequently asked questions
Which genes are linked to Bohring-Opitz syndrome?
In CATVariant, Bohring-Opitz syndrome is linked to 1 analyzed protein: ASXL1 (Polycomb group protein ASXL1).
How many genetic variants are linked to Bohring-Opitz syndrome?
96 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 33 are of uncertain significance or have conflicting reports.
Which uncertain variants in Bohring-Opitz 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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