MAGEL2

MAGE family member L2
OMIM: 605283
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Schaaf-Yang syndrome, 615547, ARTHROGRYPOSIS MULTIPLEX CONGENITA, Prader-Willi-Like syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Schaaf-Yang syndrome, ARTHROGRYPOSIS MULTIPLEX CONGENITA
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Schaaf-Yang syndrome, ARTHROGRYPOSIS MULTIPLEX CONGENITA, Schaaf-Yang syndrome, 615547
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
PRADER WILLI SYNDROME