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Cytopenias and congenital anaemias

Gene: LPIN2

Green List (high evidence)

LPIN2 (lipin 2)
EnsemblGeneIds (GRCh38): ENSG00000101577
EnsemblGeneIds (GRCh37): ENSG00000101577
OMIM: 605519, Gene2Phenotype
LPIN2 is in 7 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.

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

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
  • Microcytic anemia
  • Congenital dyserythropoietic anemia
  • CDA
  • Majeed syndrome, 609628
OMIM
605519
Clinvar variants
Variants in LPIN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature

3 Mar 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LPIN2 were set to 2809904;10969284;11795677;17330256;23087183

3 Mar 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LPIN2 were set to 2809904;10969284;11795677;17330256;23087183

3 Mar 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

3 Mar 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene LPIN2 were set to Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome, 609628

3 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for LPIN2 were set to Microcytic anemia; Congenital dyserythropoietic anemia; CDA; Majeed syndrome (includes CDA)

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

LPIN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

LPIN2 was created by LouiseD