MAGEL2

MAGE family member L2
OMIM: 605283, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MAGEL2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

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 0.205

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

Green MAGEL2 in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.30

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 1.2302

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 1.63

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 1.313

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 1.13

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