Skeletal dysplasia
Gene: LPIN2
Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - >3 cases. ; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LPIN2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. At least three variants reportedCreated: 29 Jul 2016, 10:20 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
Unknown
Phenotypes
Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: LPIN2 were changed from Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 to Majeed syndrome, OMIM:609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia
Added phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 for gene: LPIN2 Publications for gene LPIN2 were changed from to 29912021
Source NHS GMS was added to LPIN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for LPIN2 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Mode of inheritance for LPIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LPIN2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
LPIN2 was added to Unexplained skeletal dysplasiapanel. Sources:
LPIN2 was created by sleigh