Autism

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

Anna Le Fevre (Victorian Clinical Genetics Services)

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, 8:35 a.m. | Last Modified: 7 Sep 2021, 8:35 a.m.
Panel Version: 0.167

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

Phenotypes
Schaaf-Yang syndrome; Chitayat-Hall Syndrome

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
605283
Clinvar variants
Variants in MAGEL2
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAGEL2 was added gene: MAGEL2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAGEL2 was set to Unknown