MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). 31397880 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Patients with MAGEL2 variants shared several features with PWS, such as neonatal hypotonia, poor suck, and obesity; however, there were also unique features, including arthrogryposis and a failure to acquire meaningful words. 31791363 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE We discover that both parental alleles of the imprinted Prader-Willi syndrome gene Magel2 are functional in mice but regulate different modules. 31412249 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Genetic underpinning of PWS involves deletion of a chromosomal region with several genes, including MAGEL2, which is abundantly expressed in the hypothalamus. 29878108 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Evaluation of Prader-Willi Syndrome gene MAGEL2 in severe childhood-onset obesity. 16286533 2005
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. 30343463 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE We further suggest that loss of necdin contributes to the neurological phenotype of PWS, and raise the possibility that co-deletion of necdin and the related protein Magel2 may explain the lack of single gene mutations in PWS. 15649943 2005
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG) (OMIM #615547), a neurodevelopmental disorder related to PWS. 28296079 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Pathogenic variants in the paternal copy of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG), a neurodevelopmental disorder related to Prader-Willi syndrome (PWS). 31685878 2019
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease CLINVAR
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. 30343463 2018
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG) (OMIM #615547), a neurodevelopmental disorder related to PWS. 28296079 2017
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. 27195816 2017
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE We present the first data that identified a pathogenic gene (MAGEL2 c.1996delC) in a fetus with Schaaf-Yang syndrome in the EAS (East Asian) database and overcame this genetic defect by using processed PGD for this couple based on the WES results. 31152388 2019
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. 30302899 2018
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation. 30238631 2018
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE MAGEL2 mutations have been recently reported in affected individuals with features resembling PWS and called Schaaf-Yang syndrome. 26365340 2015
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 GeneticVariation disease BEFREE Recently, mutations in MAGEL2 have been described in Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis. 28281571 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Recently, mutations in MAGEL2 have been described in Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis. 28281571 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Patients with MAGEL2 variants shared several features with PWS, such as neonatal hypotonia, poor suck, and obesity; however, there were also unique features, including arthrogryposis and a failure to acquire meaningful words. 31791363 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. 31504653 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Our results indicate that MAGEL2 mutations cause multiple congenital anomalies and intellectual disability accompanied by arthrogryposis multiplex congenita and various endocrinologic abnormalities, supporting that the view that clinical phenotypes of MAGEL2 mutations are variable. 29359444 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC, recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene. 26365340 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE MAGEL2 mutations, first reported to be the cause of the Prader-Willi like syndrome with autism by Schaaf et al. 29359444 2018