Combined Immunodeficiency
Gene: MAGT1EnsemblGeneIds (GRCh38): ENSG00000102158
EnsemblGeneIds (GRCh37): ENSG00000102158
OMIM: 300715, Gene2Phenotype
MAGT1 is in 8 panels
1 review
Danielle Ariti (University of Melbourne)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: magt1 has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MAGT1 were set to
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
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