Blackfan-Diamond anemia: genes and variants
Explore variant evidence for Blackfan-Diamond anemia across 1 analyzed protein (GATA1). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 118 variants of uncertain significance and 16 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Blackfan-Diamond 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 ClinVar pathogenic / likely pathogenic and 134 uncertain variants in GATA1 have source records linked to Blackfan-Diamond anemia. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): IKZF1.
ClinVar pathogenic and likely pathogenic variants linked to Blackfan-Diamond anemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA1 T263M | 263 | GATA-type 2 | Pathogenic / likely pathogenic (★) |
| GATA1 M1I | 1 | Pathogenic / likely pathogenic (★) |
Diseases related to Blackfan-Diamond 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 have records linked to Blackfan-Diamond anemia?
This view contains 1 analyzed proteins: GATA1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 2 pathogenic or likely pathogenic variants, 118 variants of uncertain significance and 16 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 173 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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