COVID-19 research
Gene: TCIRG1
IUIS gene. Recurrent infection possible but unlikely to be predominant presenting featureCreated: 7 May 2020, 1:32 p.m. | Last Modified: 7 May 2020, 1:32 p.m.
Panel Version: 0.203
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
infantile osteopetrosis
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TCIRG1 .PanelApp HGNC gene symbol check: TCIRG1 . IUIS Disease: TCIRG1 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: Increased CD4-CD8-TCR a/bdouble negative (DN) T cells, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with hypocalcemia. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic TissuesCreated: 6 Jul 2018, 12:25 p.m.
Source Expert Review Green was added to TCIRG1. Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia; Defects in Intrinsic and Innate Immunity for gene: TCIRG1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TCIRG1 was added gene: TCIRG1 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCIRG1 were set to 32086639; 32048120 Phenotypes for gene: TCIRG1 were set to Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia; Defects in Intrinsic and Innate Immunity