Heyn-Sproul-Jackson syndrome: genes and variants
Heyn-Sproul-Jackson syndrome is linked to 1 analyzed protein (DNMT3A). 5 DNA variants are known to cause it; 4 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 Heyn-Sproul-Jackson syndrome
DNMT3A: DNA (cytosine-5)-methyltransferase 3A
It establishes new DNA methylation patterns during development and hematopoietic differentiation. Somatic variants are common in clonal hematopoiesis and acute myeloid leukemia, while germline variants cause Tatton-Brown-Rahman overgrowth syndrome.
5 disease-causing and 4 uncertain variants in DNMT3A are linked to Heyn-Sproul-Jackson syndrome.
Where Heyn-Sproul-Jackson syndrome variants cluster
- DNMT3A PWWP (positions 292–350): 3 of 5 disease-causing changes, 9.3× more than its size predicts.
Known disease-causing variants in Heyn-Sproul-Jackson syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DNMT3A R882C | 882 | SAM-dependent MTase C5-type | Disease-causing (★★) |
| DNMT3A R659C | 659 | SAM-dependent MTase C5-type | Disease-causing (★★) |
| DNMT3A G302A | 302 | PWWP | Disease-causing (★) |
| DNMT3A W306R | 306 | PWWP | Disease-causing (★) |
| DNMT3A W330R | 330 | PWWP | Disease-causing |
Same protein, different disease
- Tatton-Brown-Rahman overgrowth syndrome is also caused by DNMT3A variants; they fall mostly in different places as the Heyn-Sproul-Jackson syndrome variants (32 disease-causing).
- Acute myeloid leukemia is also caused by DNMT3A variants; they fall partly in the same places as the Heyn-Sproul-Jackson syndrome variants (5 disease-causing).
Diseases related to Heyn-Sproul-Jackson syndrome
- Acute myeloid leukemia, also linked to DNMT3A
- Tatton-Brown-Rahman overgrowth syndrome, also linked to DNMT3A
- Multiple myeloma, also linked to DNMT3A
- Paediatric disorders, also linked to DNMT3A
- Myelodysplastic syndrome, also linked to DNMT3A
- Rare genetic intellectual disability, also linked to DNMT3A
- Ebv-positive nodal t- and nk-cell lymphoma, also linked to DNMT3A
Frequently asked questions
Which genes are linked to Heyn-Sproul-Jackson syndrome?
In CATVariant, Heyn-Sproul-Jackson syndrome is linked to 1 analyzed protein: DNMT3A (DNA (cytosine-5)-methyltransferase 3A).
How many genetic variants are linked to Heyn-Sproul-Jackson syndrome?
15 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Heyn-Sproul-Jackson 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center