Autoinflammatory Disorders

Gene: LPIN2

Green List (high evidence)

LPIN2 (lipin 2)
EnsemblGeneIds (GRCh38): ENSG00000101577
EnsemblGeneIds (GRCh37): ENSG00000101577
OMIM: 605519, Gene2Phenotype
LPIN2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Majeed syndrome, MIM# 609628
  • Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia
OMIM
605519
Clinvar variants
Variants in LPIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lpin2 has been classified as Green List (High Evidence).

10 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LPIN2 were changed from to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia

10 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LPIN2 were set to

10 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LPIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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