Variant: rs1555374117 

    present in Gene: MAGEL2
    present in Chromosome: 15
    Position on Chromosome: 23644621
    Alleles of this Variant: A/-

rs1555374117 in MAGEL2 gene and Dysmorphic features PMID 24076603 2013 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

PMID 24661356 2014 Clinical phenotypes of MAGEL2 mutations and deletions.

PMID 21248145 2011 Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.

PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

PMID 19172181 2009 Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.

PMID 26365340 2015 Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

PMID 19066619 2009 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

PMID 17728320 2007 Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

PMID 11891783 2002 The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.

PMID 8424017 1993 Prader-Willi syndrome: consensus diagnostic criteria.

rs1555374117 in MAGEL2 gene and Multiple congenital anomalies PMID 24661356 2014 Clinical phenotypes of MAGEL2 mutations and deletions.

PMID 11891783 2002 The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.

PMID 17728320 2007 Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

PMID 21248145 2011 Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.

PMID 19172181 2009 Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.

PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

PMID 24076603 2013 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

PMID 8424017 1993 Prader-Willi syndrome: consensus diagnostic criteria.

PMID 26365340 2015 Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

PMID 19066619 2009 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.