Autoinflammatory Disorders
Gene: LPIN2
Majeed syndrome is a multi-system inflammatory disorder that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anaemia, with or without a neutrophilic dermatosis. More than 10 unrelated families reported in the literature.Created: 10 Sep 2021, 6:09 a.m. | Last Modified: 10 Sep 2021, 6:09 a.m.
Panel Version: 0.118
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia
Publications
Gene: lpin2 has been classified as Green List (High Evidence).
Phenotypes for gene: LPIN2 were changed from to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia
Publications for gene: LPIN2 were set to
Mode of inheritance for gene: LPIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: LPIN2 was added gene: LPIN2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: LPIN2 was set to Unknown