MAGED2

MAGE family member D2
OMIM: 300470, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MAGED2 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 5, antenatal, transient, MIM# 300971

Green MAGED2 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bartter syndrome, type 5, antenatal, transient, MIM# 300971