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COVID-19 research

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

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Changed Red to Green from external review comment and publications to support gene-disease association. Further comment from expert reviewer during this review as to why this gene should be considered Green and not Red
Created: 12 Jun 2018, 4:22 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 12 Jun 2018, 4:16 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 12 Jun 2018, 4:15 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 in OMIM, but expert reviewer states "Neutropenia is very variable in this disorder" and gives a red rating. No association with disease on G2P and found in 1/4 sources
Created: 25 May 2016, 7:38 a.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

The publications listed link neutropenia to the more typical thrombocytopenia +/- dyserythropoietic anaemia associated with hemizygous variants in this gene. Multiple patients had neutrophil counts <1. Therefore in a patient with neutropenia, it would be appropriate to consider variants in this gene as possibly disease-causing, depending on the overall clinical picture
Created: 11 Jun 2018, 2:03 p.m.
Neutropenia is very variable in this disorder
Created: 19 Oct 2015, 10:43 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
thrombocytopenia; dyserythropoietic anaemia; neutropenia

Publications

Details

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GATA1 was added gene: GATA1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,Congenital neutropaenia v1.22,NHS GMS,London North GLH Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to 16783379; 22706301 Phenotypes for gene: GATA1 were set to neutropenia; dyserythropoietic anaemia; thrombocytopenia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835