MAGEL2

MAGE family member L2
OMIM: 605283, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MAGEL2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Schaaf-Yang syndrome

    Green MAGEL2 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.198

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MAGEL2 in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Schaaf-Yang syndrome, MIM# 615547

    Green MAGEL2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Schaaf-Yang syndrome, MIM# 615547

    Green MAGEL2 in Imprinting disorders


    Version 1.3

    review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Schaaf-Yang syndrome, MIM# 615547
    • Chitayat-Hall Syndrome

    Green MAGEL2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Schaaf-Yang syndrome, MIM# 615547

    Green MAGEL2 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.10

    review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Schaaf-Yang syndrome, MIM# 615547
    • Obesity