MAGEL2 MAGE family member L2
Gene ID: 54551, updated on 5-Mar-2024Gene type: protein coding
Also known as: PWLS; nM15; NDNL1; SHFYNG
- See all available tests in GTR for this gene
- Go to complete Gene record for MAGEL2
- Go to Variation Viewer for MAGEL2 variants
Summary
Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Prader-Willi syndrome | See labs |
| Schaaf-Yang syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-05-22) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-05-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 15q11.2
- Sequence:
- Chromosome: 15; NC_000015.10 (23643549..23647867, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAGEL2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.