GATA1

GATA binding protein 1
OMIM: 305371, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GATA1 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas
Green GATA1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835 Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
Green GATA1 in COVID-19 research Level 2: Viral research Version 1.146	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Congenital neutropaenia v1.22 North West GLH Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green Congenital neutropaenia v1.22 Phenotypes neutropenia dyserythropoietic anaemia thrombocytopenia Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
Amber GATA1 in Non-acute porphyrias Level 2: Gastrohepatology Version 1.35 Latest signed off version: v1.4 (15 Oct 2020)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367 thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308 Tags watchlist
Amber GATA1 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Radial Ray abnormality
Green GATA1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes X-linked thrombocytopenia with dyserythropoiesis
Green GATA1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS North West GLH London North GLH Expert Review Green Congenital neutropaenia v1.22 Phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 thrombocytopenia dyserythropoietic anaemia neutropenia
Green GATA1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing UKGTN Phenotypes Myelodysplastic syndrome (MDS), Paediatric Diamond Blackfan Anaemia Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367
Green GATA1 in Cutaneous photosensitivity with a likely genetic cause Level 2: Dermatology Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Congenital erythropoietic porphyria Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
Green GATA1 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas
Green GATA1 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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
Green GATA1 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Green GATA1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert review Green Expert Review Green London South GLH North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH 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 GATA1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Expert list Phenotypes Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835 Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083