Non-Fanconi anaemia
Gene: GATA1
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 12:26 p.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review plus >3 unrelated cases of GATA1 variants causing an anaemia phenotype.Created: 4 May 2017, 12:26 p.m.
The 2014 papers PMID:24766296, 24952648 and 24453067 report GATA1 variants causing Diamond-Blackfan Anemia (DBA).Created: 4 May 2017, 12:25 p.m.
Comment on mode of inheritance: X-linked recessive mode of inheritance supported by OMIM.Created: 4 May 2017, 12:18 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked anaemia; X-linked thombocytopenia
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for GATA1 were set to 24766296; 24952648; 24453067
Mode of inheritance for GATA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia with beta-thalassemia, X-linked, 314050 (includes variable Hemolytic anemia); Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
Phenotypes for GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, Thrombocytopenia with beta-thalassemia, X-linked, 314050 (includes variable Hemolytic anemia); Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
GATA1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
GATA1 was added to Non-Fanconi anaemiapanel. Source: UKGTN
GATA1 was added to Non-Fanconi anaemiapanel. Source: Eligibility statement prior genetic testing
GATA1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
GATA1 was added to Non-Fanconi anaemiapanel. Source: UKGTN
GATA1 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
GATA1 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen