Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: GATA1
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 RedCreated: 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 GreenCreated: 12 Jun 2018, 4:15 p.m.
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 sourcesCreated: 25 May 2016, 7:38 a.m.
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 pictureCreated: 11 Jun 2018, 2:03 p.m.
Neutropenia is very variable in this disorderCreated: 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
Source NHS GMS was added to GATA1.
Source North West GLH was added to GATA1.
Source London North GLH was added to GATA1.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: gata1 has been classified as Green List (High Evidence).
Gene: gata1 has been classified as Green List (High Evidence).
Phenotypes for gene: GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; thrombocytopenia; dyserythropoietic anaemia; neutropenia
Publications for gene: GATA1 were set to 16783379; 22706301
GATA1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, Congenital neutropaenia v1.22
GATA1 was created by Louise Daugherty