MAGEL2 Chromosome 15
MAGE family member L2
Upload your DNA to see your personal genotypes for variants in MAGEL2.
What This Gene Does
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]
Gene Info
Gene Group
MAGE family
Locus Type
gene with protein product
Location
15q11.2
Ensembl
ENSG00000254585
Associated Conditions (14)
Inborn genetic diseases
MAGEL2-related disorder
Schaaf-Yang syndrome
Prader-Willi syndrome
Developmental disorder
Neurodevelopmental delay
See cases
Neurodevelopmental disorder
Prader-Willi-like syndrome
Ventriculomegaly
Multiple joint contractures
Generalized hypotonia
Ambiguous genitalia
Intellectual disability
Key Variants
RS1033251181
Conflicting classifications of pathogenicity
Inborn genetic diseases, MAGEL2-related disorder, Inborn genetic diseases
Health Risk
RS1045111596
Conflicting classifications of pathogenicity
MAGEL2-related disorder, Inborn genetic diseases, MAGEL2-related disorder
Health Risk
RS1176104366
Conflicting classifications of pathogenicity
Schaaf-Yang syndrome, Schaaf-Yang syndrome
Health Risk
RS1185550236
Conflicting classifications of pathogenicity
Inborn genetic diseases, MAGEL2-related disorder, Inborn genetic diseases
Health Risk
RS1222522082
Conflicting classifications of pathogenicity
Health Risk
RS1227406471
Conflicting classifications of pathogenicity
Health Risk
RS1249139977
Conflicting classifications of pathogenicity
Schaaf-Yang syndrome, Schaaf-Yang syndrome
Health Risk
RS1386125417
Conflicting classifications of pathogenicity
Health Risk
RS1433820460
Conflicting classifications of pathogenicity
Health Risk
RS146970674
Conflicting classifications of pathogenicity
Health Risk
RS1595331427
Conflicting classifications of pathogenicity
Schaaf-Yang syndrome, Schaaf-Yang syndrome
Health Risk
RS188762916
Conflicting classifications of pathogenicity
Prader-Willi syndrome, Inborn genetic diseases, Prader-Willi syndrome
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS899176705 | Health Risk | Pathogenic | Schaaf-Yang syndrome, Schaaf-Yang syndrome |
| RS1595332731 | Health Risk | Pathogenic/Likely pathogenic | Schaaf-Yang syndrome, Schaaf-Yang syndrome |
| RS1890358679 | Health Risk | Pathogenic/Likely pathogenic | Schaaf-Yang syndrome, Schaaf-Yang syndrome |
| RS1890387347 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Schaaf-Yang syndrome, Intellectual disability |
| RS2140717169 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS752097874 | Health Risk | Pathogenic/Likely pathogenic | Schaaf-Yang syndrome, Schaaf-Yang syndrome |
| RS768844200 | Health Risk | Pathogenic/Likely pathogenic | Schaaf-Yang syndrome, Schaaf-Yang syndrome |
| RS797044883 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Schaaf-Yang syndrome, Prader-Willi syndrome |