Cytopenias and congenital anaemias
Gene: LPIN2Comment on publications: To date reported in four unrelated families have so far been identified with Majeed syndrome, and all have come from the Middle East. PMID: 2809904, 10969284, 11795677 (2 large unrelated families), PMID:17330256 (1 affected) and PMID:23087183 (2 affected siblings, 1 family).
The rate of carriage of the mutations in Arab populations would predict this syndrome should be seen more commonly. It has therefore been postulated that it is under-diagnosed.Created: 3 Mar 2017, 1:28 p.m.
Comment on list classification: Changed status to green as there is enough evidence to support LPIN2 causing Majeed syndrome, is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.Created: 3 Mar 2017, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcytic anemia; Congenital dyserythropoietic anemia (CDA); Majeed syndrome
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: LPIN2 were changed from Microcytic anemia; Congenital dyserythropoietic anemia; CDA; Majeed syndrome, 609628 to Majeed syndrome, OMIM:609628; Microcytic anemia; Congenital dyserythropoietic anemia
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature
Publications for LPIN2 were set to 2809904;10969284;11795677;17330256;23087183
Publications for LPIN2 were set to 2809904;10969284;11795677;17330256;23087183
LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene LPIN2 were set to Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome, 609628
Phenotypes for LPIN2 were set to Microcytic anemia; Congenital dyserythropoietic anemia; CDA; Majeed syndrome (includes CDA)
LPIN2 was created by LouiseD
LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)