MAGED2:Ensemblv90

MAGE family member D2
OMIM: 300470, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MAGED2 in Mendeliome


Version 1.3802

1 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 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews 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

    Green MAGED2 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 2.0

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