Renal tubulopathies
Gene: MAGED2
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 providedCreated: 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
Gene: maged2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: MAGED2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGED2 were changed from to Bartter syndrome, type 5, antenatal, transient, 300971
Publications for gene: MAGED2 were set to
gene: MAGED2 was added gene: MAGED2 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: MAGED2 was set to