Clefting
Gene: MAGEL2
MAGEL2 (MAGE family member L2)
EnsemblGeneIds (GRCh38): ENSG00000254585
EnsemblGeneIds (GRCh37): ENSG00000254585
OMIM: 605283, Gene2Phenotype
MAGEL2 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000254585
EnsemblGeneIds (GRCh37): ENSG00000254585
OMIM: 605283, Gene2Phenotype
MAGEL2 is in 8 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Cleft palate is a minor feature of Schaaf-Yang syndrome and is present only in less than 10% of cases. Hence, this gene should be rated red.
PMID:31397880 - One of five patients presented in this study with heterozygous variants in MAGEL2 gene had cleft palate.
DECIPHER database - One of 20 patients with heterozygous sequence variants in MAGEL2 had cleft palate.
Sources: LiteratureCreated: 23 Jun 2023, 7:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schaaf-Yang syndrome, OMIM:615547
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Literature
- Phenotypes
-
- Schaaf-Yang syndrome, OMIM:615547
- OMIM
- 605283
- Clinvar variants
- Variants in MAGEL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jun 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: MAGEL2 was added gene: MAGEL2 was added to Clefting. Sources: Literature Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAGEL2 were set to 31397880; 37010288 Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, OMIM:615547 Review for gene: MAGEL2 was set to RED