Renal Tubulopathies and related disorders

Gene: MAGED2

Green List (high evidence)

MAGED2 (MAGE family member D2)
EnsemblGeneIds (GRCh38): ENSG00000102316
EnsemblGeneIds (GRCh37): ENSG00000102316
OMIM: 300470, Gene2Phenotype
MAGED2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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

Details

Mode of Inheritance
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
OMIM
300470
Clinvar variants
Variants in MAGED2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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