GATA1

GATA binding protein 1
OMIM: 305371, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green GATA1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367
Green GATA1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Green GATA1 in Diamond Blackfan anaemia Level 2: Haematological disorders Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Diamond-Blackfan anemia (MONDO:0015253)
Green GATA1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835
Green GATA1 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 Diamond-Blackfan anemia (MONDO:0015253)
Amber GATA1 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Erythropoietic porphyria
Red GATA1 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Red GATA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland
Amber GATA1 in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 0.17 Component of the following Super Panels: Liverome Superpanel Metabolic Disorders Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 Congenital erythropoietic porphyria
Red GATA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Porphyria, congenital erythropoietic Dyserythropoietic anemia with thrombocytopenia
Green GATA1 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Expert list Victorian Clinical Genetics Services Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083
Green GATA1 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835
Green GATA1 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Red GATA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red BeginNGS Phenotypes Blackfan-Diamond anaemia, ORPHA:124 Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 Congenital erythropoietic porphyria, ORPHA:79277 Porphyria, congenital erythropoietic Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Dyserythropoietic anemia with thrombocytopenia
Green GATA1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367