COVID-19 research
Gene: TFRC
IUIS geneCreated: 7 May 2020, 1:35 p.m. | Last Modified: 7 May 2020, 1:35 p.m.
Panel Version: 0.203
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined immunodeficiency
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TFRC .PanelApp HGNC gene symbol check: TFRC . IUIS Disease: TFRC deficiency . IUIS Inheritance: AR .T cells: Decreased, .B cells: Nl number, low memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, neutropenia, thrombocytopenia. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined ImmunodeficiencyCreated: 6 Jul 2018, 12:24 p.m.
Source Expert Review Green was added to TFRC. Added phenotypes Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity for gene: TFRC Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TFRC was added gene: TFRC was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 32086639; 32048120 Phenotypes for gene: TFRC were set to Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity