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  3. MAGEL2
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 6:22 a.m. | Last Modified: 17 Oct 2021, 6:22 a.m.
Panel Version: 0.4204

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

Phenotypes
Schaaf-Yang syndrome, MIM# 615547

Publications

Created: 17 Oct 2021, 6:22 a.m.
Last Modified: 17 Oct 2021, 6:22 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.4204

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, 8:33 a.m. | Last Modified: 7 Sep 2021, 8:33 a.m.
Panel Version: 0.4106

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

Phenotypes
Schaaf-Yang syndrome; Chitayat-Hall Syndrome

Publications

Created: 7 Sep 2021, 8:33 a.m.
Last Modified: 7 Sep 2021, 8:33 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.4106

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Schaaf-Yang syndrome, MIM# 615547
OMIM
605283
Clinvar variants
Variants in MAGEL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2022, 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).

25 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAGEL2 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547; Schaaf-Yang syndrome to Schaaf-Yang syndrome, MIM# 615547

25 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAGEL2 were set to 26365340; 27195816

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAGEL2 was added gene: MAGEL2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: MAGEL2 were set to 26365340; 27195816 Phenotypes for gene: MAGEL2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547; Schaaf-Yang syndrome