Renal Tubulopathies and related disorders
Gene: MAGED2
More than 10 families reported.Created: 15 Oct 2022, 7:13 a.m. | Last Modified: 15 Oct 2022, 7:13 a.m.
Panel Version: 0.26
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Bartter syndrome, type 5, antenatal, transient, MIM# 300971
Publications
MAGED2 has been reported to caused X-linked antenatal Bartter Syndrome in males, however, females have also been reported infrequently (PMID: 29146702).
Unsure if hypomagnesaemia is feature of antenatal Bartter syndrome.Created: 9 Apr 2020, 1:37 a.m. | Last Modified: 9 Apr 2020, 1:37 a.m.
Panel Version: 0.3
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 5, antenatal, transient (MIM#300971)
Publications
gene: MAGED2 was added gene: MAGED2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MAGED2 were set to 34895150; 35668994; 27120771 Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient, MIM# 300971