MAGED2

MAGE family member D2
OMIM: 300470, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber MAGED2 in Unexplained young onset end-stage renal disease


Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Bartter syndrome, type 5, antenatal, transient, 300971
    Tags
    • Q4_23_promote_green
    Green MAGED2 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Bartter syndrome, type 5, antenatal, transient, 300971