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Arthrogryposis

Gene: MAGEL2

Green List (high evidence)

MAGEL2 (MAGE family member L2)
EnsemblGeneIds (GRCh38): ENSG00000254585
EnsemblGeneIds (GRCh37): ENSG00000254585
OMIM: 605283, Gene2Phenotype
MAGEL2 is in 7 panels

2 reviews

Zerin Hyder (Genomics England)

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. All patients had heterozygous truncating mutations in the MAGEL2 gene.
Mejlachowicz et al (2015) reported two unrelated families with lethal AMC and heterozygous truncating frameshift MAGEL2 mutations on paternal allele.
In 4 unrelated boys with a syndrome resembling Prader-Willi syndrome, Schaaf et al. (2013) identified 4 different de novo heterozygous truncating mutations in the MAGEL2 gene with features resembling Prader-Willi syndrome; two patients had contractures of the proximal and distal interphalangeal joints.
Created: 27 Nov 2019, 12:21 p.m. | Last Modified: 27 Nov 2019, 12:21 p.m.
Panel Version: 2.84

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

Phenotypes
Schaaf-Yang syndrome; Prader-Willi-Like syndrome

Publications

Rebecca Foulger (Genomics England curator)

I don't know

G2P phenotype is 'ARTHROGRYPOSIS MULTIPLEX CONGENITA' with 'probable' disease confidence, in addition to 'Schaaf-Yang syndrome' with confirmed confidence. G2P rating based on PMID:26365340 who report 2 families with lethal arthrogryposis in deceased fetuses and MAGEL2 variant. PMID:27195816 (Fountain et al., 2017) identified the same heterozygous c.1996delC variant in 2 fetal siblings with Shaaf-Yang syndrome manifesting as AMC. PMID:31504653 (Gregory et al., 2019) report 5 patients (4 families), 3 of whom had arthrogryposis and the Gln666SerfsTer36 MAGEL2 variant. Additional papers reporting arthrogryposis as part of Schaaf-Yang syndrome E.g. PMID:29359444 so likely to be the same condition with variable severity/phenotype. Sufficient cases of arthrogryposis in the literature for a Green rating on Arthrogryposis panel.
Created: 26 Nov 2019, 3:21 p.m. | Last Modified: 26 Nov 2019, 3:21 p.m.
Panel Version: 2.65
Added to Arthrogryposis panel after agreement with Zerin Hyder (Genomics England Clinical Team), based on Arthrogryposis phenotye and Green rating on DDG2P panel V1.154.
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
Phenotypes
  • Schaaf-Yang syndrome, 615547
  • ARTHROGRYPOSIS MULTIPLEX CONGENITA
  • Prader-Willi-Like syndrome
OMIM
605283
Clinvar variants
Variants in MAGEL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Prader-Willi-Like syndrome

27 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MAGEL2 were set to 26365340; 27195816; 31504653; 29359444

26 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MAGEL2 were set to

26 Nov 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: MAGEL2 was added gene: MAGEL2 was added to Arthrogryposis. Sources: Literature,Other,Expert Review Green Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA