Severe early-onset obesity

Gene: MAGEL2

Green List (high evidence)

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

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

History Filter Activity

4 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: magel2 has been classified as Green List (High Evidence).

4 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAGEL2 were changed from Congenital Obesity to Schaaf-Yang syndrome, MIM# 615547; Obesity

4 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAGEL2 were set to

4 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

4 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: magel2 has been classified as Green List (High Evidence).

31 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAGEL2 was added gene: MAGEL2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: MAGEL2 was set to Phenotypes for gene: MAGEL2 were set to Congenital Obesity