MAGT1

magnesium transporter 1
OMIM: 300715, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green MAGT1 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Icc (MIM# 301031) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Green MAGT1 in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Icc (MIM# 301031) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Green MAGT1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	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
Green MAGT1 in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Green MAGT1 in Susceptibility to Viral Infections Level 2: Immunological disorders Version 0.117 Component of the following Super Panels: Immunological disorders_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Red MAGT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes X-linked intellectual disability MONDO:0100284 Congenital disorder of glycosylation, type Icc, OMIM #301031 Tags disputed
Green MAGT1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) Tags treatable immunological