LPIN2

PanelMode of inheritanceDetails
3 panels
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome 609628, Other autoinflammatory diseases with known genetic defect, Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders, Autoinflammatory Disorders
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, 609628, Microcytic anemia, Congenital dyserythropoietic anemia, CDA, 609628 Majeed syndrome, Majeed syndrome, 609628 Microcytic anemia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628