GATA1-Related X-Linked Cytopenia
Findings
No curated finding names GATA1-Related X-Linked Cytopenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.
Definition from the Mondo Disease Ontology (MONDO:0100089), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GATA1HGNC:4170
- Definitive · ClinGen · X-linked · 2020
Where it sits
Other names
1 name
Resolves to: GATA1-Related X-Linked Cytopenia
- Also called
- GATA1-Related Cytopenia