COVID-19 researchGene: OSTM1
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): OSTM1 .PanelApp HGNC gene symbol check: OSTM1 . IUIS Disease: OSTM1 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with hypocalcemia, neurologic features. 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, 12:31 p.m.
does not present as immunodeficiency
Created: 29 Jun 2018, 10:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to OSTM1. Added phenotypes Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features for gene: OSTM1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: OSTM1 was added gene: OSTM1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSTM1 were set to 32086639; 32048120 Phenotypes for gene: OSTM1 were set to Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features