Cytopenias and congenital anaemias
Gene: LPIN2

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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.

Created: 3 Mar 2017, 12:38 p.m.

Panel version: 0.324

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
BRIDGE consortium (NIHRBR-RD)

Phenotypes

Majeed syndrome, OMIM:609628
Microcytic anemia
Congenital dyserythropoietic anemia

OMIM

605519

Clinvar variants

Variants in LPIN2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

3 Mar 2017, Gel status: 4