MAGEL2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Congenital hyperinsulinism

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

• Severe early-onset obesity

Disease associations (Open Targets)

• Schaaf-Yang syndrome

  0.79

• Prader-Willi syndrome due to point mutation

  0.62

• Prader-Willi syndrome

  0.60

• hereditary disease

  0.53

• developmental disability

  0.41

• arthrogryposis multiplex congenita

  0.37

• neurodevelopmental disorder

  0.37

• Prader-Willi-like syndrome

  0.37

• fetal akinesia deformation sequence

  0.37

• fetal akinesia deformation sequence 1

  0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)