Severe early-onset obesity
Gene: MAGEL2

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30238631. Paternally inherited MAGEL2 PTC identified in Schaaf–Yang syndrome patient, who developed severe truncal obesity at 10 months of age. Parents reported there was no increase in intake. At 23 months, the patient was 13 standard deviations above the mean, and died most likely due to sleep apnoea caused by her extreme obesity. MAGEL2 is maternally imprinted.

PMID: 24076603. Excessive weight gain before age 6 years reported in 3/4 Prader-Willi Syndrome patients with paternally affected MAGEL2 alleles.

PMID: 27195816. Excessive weight gain reported in 5/13 Schaaf-Yang syndrome patients with paternally affected MAGEL2 alleles.
Created: 3 Nov 2021, 11:09 p.m. | Last Modified: 3 Nov 2021, 11:09 p.m.

Panel Version: 0.71

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

Phenotypes
Obesity; Excessive weight gain

Publications

Created: 3 Nov 2021, 11:09 p.m.
Last Modified: 3 Nov 2021, 11:09 p.m.
Panel version: 0.71

Details

Mode of Inheritance

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

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Schaaf-Yang syndrome, MIM# 615547
Obesity

OMIM

605283

Clinvar variants

Variants in MAGEL2

Penetrance

None

Publications

Panels with this gene