Combined Immunodeficiency

Gene: MAGT1

Green List (high evidence)

MAGT1 (magnesium transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000102158
EnsemblGeneIds (GRCh37): ENSG00000102158
OMIM: 300715, Gene2Phenotype
MAGT1 is in 8 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

36 unrelated males have been reported with over 20 unique variants in MAGT1 resulting in XMEN phenotype; Multiple mouse models.

Hemizygous (deletion, duplication and nonsense) variants have been reported resulting in frameshift and/or premature termination.

Recurrent respiratory and IG infections (splenomegaly), high level of EBV, increased susceptibility for developing EBV-positive lymphomas and dysgammaglobulinaemia.
Created: 19 Aug 2021, 6:02 a.m. | Last Modified: 19 Aug 2021, 6:02 a.m.
Panel Version: 0.355

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853; XMEN; Low CD4; inverted CD4/CD8 ratio; reduced MAIT cells; poor proliferation to CD3; decreased memory B cells; progressive hypogammaglobulinaemia; reduced NK cell; EBV infection; lymphoma; viral infections; respiratory and GI infections; Glycosylation defects

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853
  • XMEN
  • Low CD4
  • inverted CD4/CD8 ratio
  • reduced MAIT cells
  • poor proliferation to CD3
  • decreased memory B cells
  • progressive hypogammaglobulinaemia
  • reduced NK cell
  • EBV infection
  • lymphoma
  • viral infections
  • respiratory and GI infections
  • Glycosylation defects
OMIM
300715
Clinvar variants
Variants in MAGT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: magt1 has been classified as Green List (High Evidence).

19 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAGT1 were changed from to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853; XMEN; Low CD4; inverted CD4/CD8 ratio; reduced MAIT cells; poor proliferation to CD3; decreased memory B cells; progressive hypogammaglobulinaemia; reduced NK cell; EBV infection; lymphoma; viral infections; respiratory and GI infections; Glycosylation defects

19 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAGT1 were set to

19 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAGT1 was added gene: MAGT1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MAGT1 was set to Unknown