Severe early-onset obesity
Gene: MAGEL2
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
Gene: magel2 has been classified as Green List (High Evidence).
Phenotypes for gene: MAGEL2 were changed from Congenital Obesity to Schaaf-Yang syndrome, MIM# 615547; Obesity
Publications for gene: MAGEL2 were set to
Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Gene: magel2 has been classified as Green List (High Evidence).
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