Genomics England
GMS Panels
Panels
Genes and Entities

MAGED2

MAGE family member D2
OMIM: 300470
PanelMode of inheritanceDetails
2 panels
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Bartter syndrome, type 5, antenatal, transient, 300971
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Bartter syndrome, type 5, antenatal, transient, 300971