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Newborns main panel

Gene: MAGED2

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 15 Oct 2025, 2:45 p.m. | Last Modified: 15 Oct 2025, 2:45 p.m.
Panel Version: 0.480
Created: 15 Oct 2025, 2:45 p.m.
Last Modified: 15 Oct 2025, 2:45 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team. Katrina Stone comment: This won't be on the list. Mafalda Gomes comment:
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

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

Phenotypes
Bartter syndrome, type 5, antenatal, transient

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Bartter syndrome, type 5, antenatal, transient
Tags
special_consideration condition_removed
OMIM
300470
Clinvar variants
Variants in MAGED2
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: maged2 has been classified as Amber List (Moderate Evidence).

15 Oct 2025, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: MAGED2. Tag condition_removed tag was added to gene: MAGED2.

14 Sep 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MAGED2. Added phenotypes Bartter syndrome, type 5, antenatal, transient for gene: MAGED2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MAGED2. Added phenotypes Bartter syndrome, type 5, antenatal, transient for gene: MAGED2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to MAGED2. Added phenotypes Bartter syndrome, type 5, antenatal, transient for gene: MAGED2 Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MAGED2. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bartter syndrome, type 5, antenatal, transient for gene: MAGED2

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MAGED2 was added gene: MAGED2 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females