GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: LPIN2

LPIN2 (lipin 2)
EnsemblGeneIds (GRCh38): ENSG00000101577
EnsemblGeneIds (GRCh37): ENSG00000101577
OMIM: 605519, Gene2Phenotype
LPIN2 is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - >3 cases. ; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628

Publications

29912021

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628

OMIM

605519

Clinvar variants

Variants in LPIN2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: LPIN2 was added gene: LPIN2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPIN2 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: LPIN2