Genomics England
GMS Panels
Panels
Genes and Entities

LPIN2

lipin 2
OMIM: 605519
PanelMode of inheritanceDetails
4 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, OMIM:609628
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, OMIM:609628, Microcytic anemia, Congenital dyserythropoietic anemia
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, OMIM:609628, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia