Genomics England

GATA1

GATA binding protein 1

Panel	Mode of inheritance	Details
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Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Green in Cutaneous photosensitivity with a likely genetic cause R-numbers: R237 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Congenital erythropoietic porphyria, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835, Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	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
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	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 3.0	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