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Research panel - Severe Paediatric Disorders

Gene: GATA1

Green List (high evidence)
GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GATA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3) | Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3) | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
  • Thrombocytopenia with beta-thalassemia, X-linked, 314050
OMIM
305371
Clinvar variants
Variants in GATA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GATA1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia with beta-thalassemia, X-linked, 314050; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GATA1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GATA1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GATA1 was added gene: GATA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GATA1 was set to