Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: MPI

Red List (low evidence)

I suppose the protein-losing enteropathy might cause a secondary hypogammaglobulinaemia but immunodeficiency does not appear to be a prominent aspect of the phenotype

Created: 29 Jun 2018, 2:37 p.m.

Comment on list classification: Changed from Amber to Red based on external clinical expert review and review of the literature. Immunological association of this gene is not a primary phenotype and is better represented on other panels (Congenital disorders of glycosylation, Undiagnosed metabolic disorders, Intellectual disability). Gene is pertinent on Victorian Clinical Genetics Services panel for Immunological disorders. However gene not present on any other PID related panels or within ESID or IUIS classifications. Request evidences / immunological association of this gene from Victorian Clinical Genetics Services.

Created: 4 Jul 2018, 12:59 p.m.

Comment on list classification: 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 from Victorian Clinical Genetics Services. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. No disorder or MOI was listed in the submitted list.

Created: 26 Jun 2018, 12:46 p.m.