GATA1 Chromosome X
GATA binding protein 1
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What This Gene Does
This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
GATA zinc finger domain containing
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000102145
Associated Conditions (24)
Thrombocytopenia
X-linked
with dyserythropoietic anemia
with or without dyserythropoietic anemia
Macrothrombocytopenia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Beta-thalassemia-X-linked thrombocytopenia syndrome
Transient myeloproliferative syndrome
Inborn genetic diseases
GATA1-related disorder
Down syndrome
Anemia
Cutaneous porphyria
X-linked GATA1-related disorders
without dyserythropoietic anemia
Acute megakaryoblastic leukemia in down syndrome
LEUKEMIA
+4 more conditions
Key Variants
RS104894808
Conflicting classifications of pathogenicity
Thrombocytopenia, X-linked, with dyserythropoietic anemia
Health Risk
RS1317593957
Conflicting classifications of pathogenicity
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Health Risk
RS140561920
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
Health Risk
RS141479621
Conflicting classifications of pathogenicity
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Inborn genetic diseases
Health Risk
RS149753411
Conflicting classifications of pathogenicity
GATA1-related disorder, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Health Risk
RS1557020430
Conflicting classifications of pathogenicity
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Health Risk
RS199710067
Conflicting classifications of pathogenicity
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Inborn genetic diseases
Health Risk
RS202091014
Conflicting classifications of pathogenicity
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Inborn genetic diseases
Health Risk
RS2519344834
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
Health Risk
RS368193049
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
Health Risk
RS370706809
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, GATA1-related disorder
Health Risk
RS371752832
Conflicting classifications of pathogenicity
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894808 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, X-linked, with dyserythropoietic anemia |
| RS1317593957 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Hemolytic anemia due to erythrocyte adenosine deaminase overproduction |
| RS140561920 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS141479621 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Inborn genetic diseases |
| RS149753411 | Health Risk | Conflicting classifications of pathogenicity | GATA1-related disorder, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS1557020430 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS199710067 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Inborn genetic diseases |
| RS202091014 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Inborn genetic diseases |
| RS2519344834 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS368193049 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS370706809 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, GATA1-related disorder |
| RS371752832 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS587776454 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS782012546 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS782120820 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA1-related disorder |
| RS782208453 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS782299679 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS782536159 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS782695653 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Inborn genetic diseases |
| RS782698349 | Health Risk | Conflicting classifications of pathogenicity | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Down syndrome |
| RS782790256 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Inborn genetic diseases |
| RS1602220307 | Health Risk | Likely pathogenic | Anemia, Thrombocytopenia, Anemia |
| RS2519343812 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, GATA1-related disorder |
| RS2519343818 | Health Risk | Likely pathogenic | X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia |
| RS2519343851 | Health Risk | Likely pathogenic | GATA1-related disorder, GATA1-related disorder |
| RS2519344939 | Health Risk | Likely pathogenic | — |
| RS2519345698 | Health Risk | Likely pathogenic | — |
| RS373414851 | Health Risk | Likely pathogenic | — |
| RS387907207 | Health Risk | Likely pathogenic | Beta-thalassemia-X-linked thrombocytopenia syndrome, Thrombocytopenia, X-linked |
| RS587776456 | Health Risk | Likely pathogenic | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia |
| RS104894809 | Health Risk | Pathogenic | Beta-thalassemia-X-linked thrombocytopenia syndrome, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS104894815 | Health Risk | Pathogenic | Thrombocytopenia, X-linked, with dyserythropoietic anemia |
| RS1273620943 | Health Risk | Pathogenic | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS137852312 | Health Risk | Pathogenic | Thrombocytopenia, X-linked, without dyserythropoietic anemia |
| RS1557020001 | Health Risk | Pathogenic | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS1557020021 | Health Risk | Pathogenic | Acute megakaryoblastic leukemia in down syndrome, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS1569499310 | Health Risk | Pathogenic | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS1569499366 | Health Risk | Pathogenic | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1602218917 | Health Risk | Pathogenic | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS1602219139 | Health Risk | Pathogenic | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS1602220695 | Health Risk | Pathogenic | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS2062673272 | Health Risk | Pathogenic | Transient myeloproliferative syndrome, Transient myeloproliferative syndrome |
| RS2062673523 | Health Risk | Pathogenic | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS2062673530 | Health Risk | Pathogenic | Transient myeloproliferative syndrome, Transient myeloproliferative syndrome |
| RS2062673787 | Health Risk | Pathogenic | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS2062673859 | Health Risk | Pathogenic | Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome |
| RS2062673949 | Health Risk | Pathogenic | Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome |
| RS2062674043 | Health Risk | Pathogenic | Transient myeloproliferative syndrome, Transient myeloproliferative syndrome |
| RS2062674122 | Health Risk | Pathogenic | Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome |
| RS2062674253 | Health Risk | Pathogenic | Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome |