Renal tubulopathies

Gene: MAGED2

Green List (high evidence)

Comment on list classification: Changing rating from red to green as more than 3 cases have been reported.

Created: 5 Sep 2019, 4:01 p.m. | Last Modified: 5 Sep 2019, 4:01 p.m.

Panel Version: 1.136

Comment on mode of inheritance: Note - no cases reported in females to date.

Created: 5 Sep 2019, 3:57 p.m. | Last Modified: 5 Sep 2019, 3:57 p.m.

Panel Version: 1.135

Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM.

PMID: 27120771 - Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified.

Created: 31 Aug 2019, 5:22 p.m. | Last Modified: 5 Sep 2019, 3:54 p.m.

Panel Version: 1.134

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: MAGED2; Suggested initial gene rating: green; Evidence for inclusion: Laghmani et al 2016 N Eng J Med 374: 1853-1863. PMID: 27120771; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided

Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Bartter syndrome, type 5, antenatal, transient, MIM 300971

Publications

• Laghmani et al 2016 N Eng J Med 374: 1853-1863. PMID: 27120771