Early onset pancytopenia and red cell disorders
Gene: GATA1EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
- Sources
-
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
- Congenital Dyserythropoietic Anemia
- Familial MDS (Myelodysplastic syndromes)
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
- OMIM
- 305371
- Clinvar variants
- Variants in GATA1
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cutaneous photosensitivity with a likely genetic cause
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Limb disorders
- Non-acute porphyrias
- Haematological malignancies cancer susceptibility
- Rare anaemia
- Inherited bleeding disorders
- Fetal anomalies
- COVID-19 research
- Fetal hydrops
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GATA1 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GATA1 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen