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Primary immunodeficiency

Gene: MPO

Amber List (moderate evidence)

MPO (myeloperoxidase)
EnsemblGeneIds (GRCh38): ENSG00000005381
EnsemblGeneIds (GRCh37): ENSG00000005381
OMIM: 606989, Gene2Phenotype
MPO is in 4 panels

3 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

deficiency of MPO is usually asymptomatic, and not classified as an immunodeficiency by the IUIS
Created: 29 Jun 2018, 2:40 p.m.

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Comment on list classification: PMID 3208230 outlines the role of neutrophil extracellular traps (NETs) in the control of some pathogens including viruses, by virus capture and neutralization. In vivo treatment of the mice with DNase resulted in the enhanced susceptibility of IFNAR-/- mice to the CHIKV virus. Furthermore, the levels of MPO-DNA complex in acutely CHIKV-infected patients, were correlated with the levels of NETs and the viral load in the blood, suggesting that NETs are also released in natural human infection cases. Therefore, variants that result in myeloperoxidase deficiency, may well contribute to an increased susceptiblity to viral infection. At least 9 variants have been reported in Myeloperoxidase deficiency 254600 and these could well be contributing to increased viral susceptibily.
Created: 7 Apr 2020, 4:36 p.m. | Last Modified: 7 Apr 2020, 4:36 p.m.
Panel Version: 2.44
Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified. Although the phenotype may not be directly relevant for this panel, patients may be recruited under this heading with recurrent fungal infections (Helen Britain).
Created: 8 May 2018, 10:38 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Amber to Red based on external clinical expert review and review of the literature. Deficiency of MPO is notes as asymptomatic, and not classified as an immunodeficiency by the IUIS, but it is noted on the ESID classification list. Request evidences /immunological association of this gene from GRID
Created: 4 Jul 2018, 1:07 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MPO, PanelApp HGNC gene symbol check: MPO, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Myeloperoxidase deficiency (MPO) / Myeloperoxidase deficiency (MPO)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MPO, GRID_Gene_Symbol: MPO, GRID_Transcript_ENS_Community submitted: ENST00000225275, GRID_Transcript_RefSeq: NM_000250.1, GRID_Transcript_ENS_used_on_Production: ENST00000225275
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Myeloperoxidase deficiency 254600
OMIM
606989
Clinvar variants
Variants in MPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mpo has been classified as Amber List (Moderate Evidence).

6 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MPO were set to 15108282; 9354683; 9637725

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

4 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mpo has been classified as Red List (Low Evidence).

4 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mpo has been classified as Red List (Low Evidence).

1 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MPO were set to Myeloperoxidase deficiency 254600

1 May 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MPO were set to 15108282; 9354683; 9637725

1 May 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MPO was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to MPO. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to MPO. Panel: Primary immunodeficiency disorders Phenotypes for gene MPO were set to Myeloperoxidase deficiency, Myeloperoxidase deficiency (MPO)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene MPO were set to Myeloperoxidase deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MPO was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

MPO was created by Louise Daugherty