Primary immunodeficiencyGene: MPEG1
Comment on list classification: New gene added by Zornitza Stark. Sufficient number of unrelated cases (5 - PMIDs: 33224153; 28422754) with immunopathology and distinct biallelic variants in this gene to rate as Green at the next GMS panel update. Supported by functional evidence and animal model.
MPEG1 is also associated with a relevant phenotype in OMIM (MIM# 619223)
Created: 27 Apr 2021, 2:42 p.m. | Last Modified: 27 Apr 2021, 2:42 p.m.
Panel Version: 2.418
Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.
Four individuals reported, functional data, including animal model.
Created: 15 Apr 2021, 11:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Immunodeficiency 77, MIM# 619223
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MPEG1 were changed from Immunodeficiency 77, MIM# 619223 to Immunodeficiency 77, OMIM:619223
Gene: mpeg1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: MPEG1.
gene: MPEG1 was added gene: MPEG1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MPEG1 were set to 33224153; 33692780; 28422754 Phenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223 Review for gene: MPEG1 was set to GREEN gene: MPEG1 was marked as current diagnostic