Diamond-Blackfan anemia: genes and variants
Diamond-Blackfan anemia is linked to 1 analyzed protein (GATA1). 2 DNA variants are known to cause it; 134 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 Diamond-Blackfan anemia
GATA1: Erythroid transcription factor
It directs erythroid and megakaryocytic differentiation by activating lineage-specific genes and suppressing alternative hematopoietic programs. Germline variants can cause anemia and thrombocytopenia syndromes, while acquired N-terminal mutations are characteristic of transient abnormal myelopoiesis and myeloid leukemia in Down syndrome.
2 disease-causing and 134 uncertain variants in GATA1 are linked to Diamond-Blackfan anemia.
Known disease-causing variants in Diamond-Blackfan anemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA1 T263M | 263 | GATA-type 2 | Disease-causing (★) |
| GATA1 M1I | 1 | Disease-causing (★) |
Diseases related to Diamond-Blackfan anemia
- Acute megakaryoblastic leukemia in down syndrome, also linked to GATA1
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, also linked to GATA1
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, also linked to GATA1
Frequently asked questions
Which genes are linked to Diamond-Blackfan anemia?
In CATVariant, Diamond-Blackfan anemia is linked to 1 analyzed protein: GATA1 (Erythroid transcription factor).
How many genetic variants are linked to Diamond-Blackfan anemia?
172 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 134 are of uncertain significance or have conflicting reports.
Which uncertain variants in Diamond-Blackfan anemia 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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