LPIN2

PanelMode of inheritanceDetails
4 panels
R-numbers: R413
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, OMIM:609628
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, OMIM:609628, Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders, Autoinflammatory Disorders
Green
in Rare anaemia
R-numbers: R92
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, OMIM:609628, Microcytic anemia, Congenital dyserythropoietic anemia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, OMIM:609628, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia