MAGED2

MAGE family member D2
OMIM: 300470
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Bartter syndrome, type 5, antenatal, transient, OMIM:300971
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Bartter syndrome, type 5, antenatal, transient, OMIM:300971