Anaemias and red cell disorders
Gene: GATA1EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels
2 reviews
Helen Brittain (Genomics England Curator)
3 separate families identified in PMIDs. Two with splicing mutation and one with missense. Presenting with anaemia +/- thrombocytopaeniaCreated: 16 Feb 2017, 4:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Diamond Blackfan Anaemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Eligibility statement prior genetic testing
- UKGTN
- Radboud University Medical Center, Nijmegen
- Radboud University Medical Center, Nijmegen
- 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
- Inherited Bone Marrow Failure Syndromes
- Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835
- 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
Created
Ellen McDonagh (Genomics England Curator)GATA1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,UKGTN