MAGEL2

MAGE family member L2
OMIM: 605283, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green MAGEL2 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
  • PanelApp
Phenotypes
  • Schaaf-Yang syndrome, OMIM:615547
  • Schaaf-Yang syndrome, MONDO:0014243
Red MAGEL2 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
Red MAGEL2 in Pituitary hormone deficiency


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • NHS GMS
  • Expert Review Red
  • Expert review
Phenotypes
  • Schaaf-Yang syndrome, OMIM:615547
  • Schaaf-Yang syndrome, MONDO:0014243
Green MAGEL2 in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • NHS GMS
  • Expert Review Green
  • Expert review
Phenotypes
  • Schaaf-Yang syndrome, OMIM:615547
  • Schaaf-Yang syndrome, MONDO:0014243
Amber MAGEL2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Green MAGEL2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Schaaf-Yang syndrome, OMIM:615547
  • Prader-Willi-Like syndrome
Green MAGEL2 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Schaaf-Yang syndrome
  • ARTHROGRYPOSIS MULTIPLEX CONGENITA
  • Schaaf-Yang syndrome, 615547
Tags
  • watchlist
Green MAGEL2 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Schaaf-Yang syndrome, OMIM:615547
    Red MAGEL2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Schaaf-Yang syndrome, OMIM:615547
    Green MAGEL2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • PRADER WILLI SYNDROME
    Green MAGEL2 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Schaaf-Yang syndrome, 615547