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COVID-19 research

Gene: MAGT1

Green List (high evidence)

MAGT1 (magnesium transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000102158
EnsemblGeneIds (GRCh37): ENSG00000102158
OMIM: 300715, Gene2Phenotype
MAGT1 is in 9 panels

6 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
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 Conditions
Created: 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 study
Created: 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 immunodeficiency
Created: 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: ENST00000358075
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

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

  • Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D.Science. 2013 Jul 12
  • 341(6142):186-91

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • 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
OMIM
300715
Clinvar variants
Variants in MAGT1
Penetrance
None
Publications
Panels with this gene

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: 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