Genomics England
GMS Panels
Panels
Genes and Entities

MAGT1

magnesium transporter 1
OMIM: 300715
PanelMode of inheritanceDetails
3 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853, IAP-CDG (Disorders of protein N-glycosylation)
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853, 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