Primary immunodeficiencyGene: HMOX1
Comment on publications: Added publications suggested from external expert review
Created: 6 Jul 2018, 12:42 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): HMOX .PanelApp HGNC gene symbol check: HMOX1 . IUIS Disease: Isolated congenital asplenia (ICA) due to HMOX deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Macrophages. IUIS Associated features: Hemolysis, nephritis, inflammation. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:20 p.m.
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.
Gene: hmox1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: HMOX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMOX1 were set to Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis
Publications for gene: HMOX1 were set to 9884342; 21088618
Phenotypes for gene HMOX1 were set to Hemolysis, nephritis, inflammation, Defects in Intrinsic and Innate Immunity
HMOX1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
HMOX1 was created by Louise Daugherty