GATA1

GATA binding protein 1
OMIM: 305371
PanelMode of inheritanceDetails
6 panels
R-numbers: R90
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
R-numbers: R237
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital erythropoietic porphyria, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
R-numbers: R91
Signed-off version 1.29
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
314050 Thrombocytopenia with beta-thalassemia, X-linked, Diamond Blackfan Anaemia, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, Myelodysplastic syndrome (MDS), Paediatric, Anaemia, thrombocytopenia
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Class: BM failure syndrome (typ AR), Diamond Blackfan Anemia, MDS, AML, Osteosarcoma, soft tissue sarcomas
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, thrombocytopenia, dyserythropoietic anaemia, neutropenia
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Diamond-Blackfan anaemia, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367, 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, Diamond Blackfan Anaemia, 300367 Diamond Blackfan Anaemia, Myelodysplastic syndrome (MDS), Paediatric, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367