Genomic imprinting
Gene: MAGEL2EnsemblGeneIds (GRCh38): ENSG00000254585
EnsemblGeneIds (GRCh37): ENSG00000254585
OMIM: 605283, Gene2Phenotype
MAGEL2 is in 8 panels
1 review
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
From the Intellectual disability gene panel
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Expert Review Green
- Literature
- PanelApp
- Phenotypes
-
- Schaaf-Yang syndrome, OMIM:615547
- Schaaf-Yang syndrome, MONDO:0014243
- OMIM
- 605283
- Clinvar variants
- Variants in MAGEL2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MAGEL2 were changed from From the Intellectual disability gene panel to Schaaf-Yang syndrome, OMIM:615547; Schaaf-Yang syndrome, MONDO:0014243
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MAGEL2 were set to 30794780; http://igc.otago.ac.nz/home.html
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: magel2 has been classified as Green List (High Evidence).
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to MAGEL2. Publications for gene MAGEL2 were updated from to 30794780; http://igc.otago.ac.nz/home.html
Created
Ellen McDonagh (Genomics England Curator)MAGEL2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MAGEL2 was added to Imprinted Genespanel. Sources: PanelApp