COVID-19 research
Gene: HMOX1Comment on publications: Added publications suggested from external expert reviewCreated: 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 TissuesCreated: 6 Jul 2018, 12:20 p.m.
Only one report of asplenia as part of this syndrome (phenotype dominated by haemolysis, endothelial inflammation)Created: 29 Jun 2018, 8:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
haemolysis; nephritis; asplenia; amyloidosis
Publications
Source Expert Review Green was added to HMOX1. Added phenotypes amyloidosis; Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity for gene: HMOX1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HMOX1 was added gene: HMOX1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMOX1 were set to 21088618; 9884342 Phenotypes for gene: HMOX1 were set to amyloidosis; Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity