COVID-19 research
Gene: RASGRP1
Agree with green ratingCreated: 23 Oct 2019, 7:01 a.m. | Last Modified: 23 Oct 2019, 7:01 a.m.
Panel Version: 1.132
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
Two recent papers describing 4 families with variants in this gene and a range of immune phenotypes.Created: 23 Aug 2018, 4:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, immunde dysregulation, EBV-induced lymphoma
Publications
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 publications: added further publications to further support gene-disease associationCreated: 19 Aug 2019, 9:27 a.m. | Last Modified: 19 Aug 2019, 9:27 a.m.
Panel Version: 1.53
Comment on phenotypes: added OMIM MIM idCreated: 19 Aug 2019, 9:22 a.m. | Last Modified: 19 Aug 2019, 9:22 a.m.
Panel Version: 1.52
Comment on list classification: Changed status from Red to Green from external review and reference to two recent publications, Somekh I et al., PMID: 30030704 (2018) and Winter S et al., PMID: 29282224, there are more than three unrelated families described with immunodeficiency phenotype.Created: 21 Sep 2018, 10:43 a.m.
Comment on phenotypes: added phenotypes suggested by external reviewerCreated: 21 Sep 2018, 10:36 a.m.
Comment on publications: Added publications suggested by external reviewer to support upgrading of the gene to GreenCreated: 21 Sep 2018, 10:35 a.m.
Comment on mode of inheritance: added MOI suggested by external reviewer and from publicationsCreated: 21 Sep 2018, 10:34 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RASGRP1 .PanelApp HGNC gene symbol check: RASGRP1 . IUIS Disease: RASGRP1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Poor activation, proliferation, motility, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative ConditionsCreated: 6 Jul 2018, 12:34 p.m.
gene: RASGRP1 was added gene: RASGRP1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP1 were set to 27776107; 28822832; 30030704; 29282224; 29155103 Phenotypes for gene: RASGRP1 were set to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Immunodeficiency 64, 618534; Diseases of Immune Dysregulation; Immunodeficiency; EBV-induced lymphoma; immunde dysregulation