MAGEL2

MAGE family member L2
OMIM: 605283, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green MAGEL2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.19

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 2 reviews 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 0.250

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

    Green MAGEL2 in Hyperinsulinism


    Level 2: Endocrine disorders
    Version 1.51

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

    Green MAGEL2 in Mendeliome


    Version 1.4851

    2 reviews 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 1.780

    2 reviews 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 Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.226

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

    Green MAGEL2 in Imprinting disorders


    Version 1.11

    2 reviews 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 1.576

    2 reviews 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 1.32

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