Cytopenias and congenital anaemias
Gene: GATA1Comment on publications: literature added from papers published in 2014 PMID: 24766296, 24952648, 24453067 supports evidence for five families where GATA1 variants cause Diamond-Blackfan AnemiaCreated: 13 Mar 2017, 5:02 p.m.
Comment when marking as ready: Appropriate for inclusion. There is no clear evidence to suggest that "loss of function mutations do not cause the phenotype" therefore I think this was selected in error at the initial review.Created: 28 Feb 2017, 1:47 p.m.
3 separate families identified in PMIDs. Two with splicing mutation and one with missense. Presenting with anaemia +/- thrombocytopaeniaCreated: 16 Feb 2017, 4:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Diamond Blackfan Anaemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for GATA1 were set to 22706301; 10700180; 24766296; 24952648; 24453067
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for GATA1 were set to 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
Publications for GATA1 were set to 22706301; 10700180
Mode of inheritance for GATA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
GATA1 was created by LouiseD
GATA1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN