Imprinting disorders

Gene: MAGEL2

Green List (high evidence)

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Some patients may have central endocrine abnormalities, such as growth hormone deficiency or hypothyroidism. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene.

Created: 17 Oct 2021, 6:19 a.m. | Last Modified: 17 Oct 2021, 6:19 a.m.

Panel Version: 0.31

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

Phenotypes
Schaaf-Yang syndrome, MIM# 615547

Green List (high evidence)

Multiple reports.

MAGEL2 is a single-exon gene.
Frameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products.
The pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role.
Sources: Literature

Created: 7 Sep 2021, 8:37 a.m. | Last Modified: 16 Oct 2021, 12:46 a.m.

Panel Version: 0.19

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

Phenotypes
Schaaf-Yang syndrome; Chitayat-Hall Syndrome

Publications

• 24076603
• 31397880
• 29599419
• 30302899