Fetal anomalies
Gene: MAGEL2

MAGEL2 (MAGE family member L2)
EnsemblGeneIds (GRCh38): ENSG00000254585
EnsemblGeneIds (GRCh37): ENSG00000254585
OMIM: 605283, Gene2Phenotype
MAGEL2 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.

Comment on list classification: Updated rating from Amber to Green following comment from Deirdre Cilliers. Originally rated Amber based on multiple ratings for multiple disorders: rated as Confirmed for Schaaf-Yang syndrome in DDG2P, with sufficient (>3) cases to support causation. PMID:26365340 (Mejlachowicz et al 2015) report 3 fetuses with Schaaf-Yang syndrome manifested as arthrogryposis multiplex congenita (AMC) and death in utero, and Deirdre Cilliers confirms that phenotype is fetally relevant.
Created: 11 Feb 2019, 3:52 p.m.

Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [MAGEL2 should be on the Fetal anomalies panel]. The phenotype would be clear on scan and the test likely requested because of the scan findings of akinesia. Even if incidentally identified, it will be useful information for the parents, e.g. expectation of learning difficulties, if positive.
Created: 11 Feb 2019, 2:50 p.m.

'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 8:48 p.m.

In the original PAGE file, MOI was listed as Imprinted for Schaaf-Yang syndrome and ARTHROGRYPOSIS MULTIPLEX CONGENITA. In the original PAGE file: rated as Confirmed for Schaaf-Yang syndrome, and rated as Probable for ARTHROGRYPOSIS MULTIPLEX CONGENITA.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

Schaaf-Yang syndrome
ARTHROGRYPOSIS MULTIPLEX CONGENITA
Schaaf-Yang syndrome, 615547

Tags

watchlist

OMIM

605283

Clinvar variants

Variants in MAGEL2

Penetrance

None

Publications

Panels with this gene