Arthrogryposis

Gene: MAGEL2

Green List (high evidence)

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.

Created: 7 Sep 2021, 12:02 p.m. | Last Modified: 7 Sep 2021, 12:02 p.m.

Panel Version: 0.292

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

Phenotypes
Schaaf-Yang syndrome; Chitayat-Hall Syndrome; Arthrogryposis

Publications

• 26365340
• 33820833
• 34128869

Green List (high evidence)

Fountain et al. (2017) reported 18 patients with SHFYNG ascertained on the basis of genetic studies from several different research groups or laboratories. Joint contractures were present in almost all patients, and ranged from only the interphalangeal joints to lethal fetal akinesia with severe arthrogryposis.
Mejlachowicz et al (2015) reported two unrelated families with lethal AMC and heterozygous truncating frameshift MAGEL2 mutations on paternal allele.
Sources: Expert list

Created: 11 Jul 2020, 8:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schaaf-Yang syndrome

Publications

• 24076603
• 27195816
• 26365340