MAGT1

magnesium transporter 1
OMIM: 300715
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function, XMEN syndrome, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN), Combined immunodeficiency, EBV infection, lymphoma, viral infections, respiratory and GI infections, Diseases of Immune Dysregulation