COVID-19 research
Gene: MAGT1
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
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MAGT1 .PanelApp HGNC gene symbol check: MAGT1 . IUIS Disease: MAGT1 deficiency (XMEN) . IUIS Inheritance: XL .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: EBV infection, lymphoma, viral infections, respiratory and GI infections. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative ConditionsCreated: 2 Jul 2018, 10:35 a.m.
Transfer of reviews on publications that were in the publications section. Review made by Ellen McDonagh (Genomics England Curator), 3 Jun 2016. PMID: 21796205 - two young brothers with a 10bp deletion not present in the mother's cDNA or 100 normal individuals, present in the grandmother and great-grandmother of the patients. MAGT1 protein was undetectable in the patient's cells, screening of a third unrelated patient identified a nonsense mutation in exon 3 23846901 27095930 (2 patients with T-B+NK+ combined immunodeficiency) PMID: 25956530 case study of a 17 year old boy with severe autoimmune disorders and Hodgkin lymphoma mimicking autoimmune lymphoproliferative syndrome with a hemizygous c.555dup variant PMID: 25504528 case of a 58-year old Caucasian male and his nephew, identified novel variant c.712C > T, p.R238X (though unclear whether other unaffected family members had this variant) PMID: 25205404 clinical utility gene card describes 7 patients PMID: 24550228 - define XMEN disease, characterised by loss-of-function mutations in MAGT1. PMID: 23871722 association with X-linked intellectual disability is questioned PMID: 21983175 functional studyCreated: 18 Apr 2018, 3:45 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MAGT1, PanelApp HGNC gene symbol check: MAGT1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MAGT1, GRID_Gene_Symbol: MAGT1, GRID_Transcript_ENS_Community submitted: ENST00000358075, GRID_Transcript_RefSeq: NM_032121.5, GRID_Transcript_ENS_used_on_Production: ENST00000358075Created: 17 Apr 2018, 12:12 p.m.
Comment on list classification: Added by an expert reviewer, with a second green review. Multiple cases reported for association with XMEN syndrome/disease.Created: 3 Jun 2016, 2:47 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
Publications
gene: MAGT1 was added gene: MAGT1 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 21796205; 25504528; 25205404; 24550228; 23846901; 27095930; 23871722; 21983175; 25956530 Phenotypes for gene: MAGT1 were set to Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; Combined immunodeficiency; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Immunodeficiency, X-linked, with magnesium defect; Diseases of Immune Dysregulation; Epstein-Barr virus infection and neoplasia (XMEN); EBV infection, lymphoma, viral infections, respiratory and GI infections; XMEN syndrome