COVID-19 research
Gene: TFRC

TFRC (transferrin receptor)
EnsemblGeneIds (GRCh38): ENSG00000072274
EnsemblGeneIds (GRCh37): ENSG00000072274
OMIM: 190010, Gene2Phenotype
TFRC is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 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

26642240

Created: 7 May 2020, 1:35 p.m.
Last Modified: 7 May 2020, 1:35 p.m.
Panel version: 0.203

Louise Daugherty (Genomics England Curator)

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 Immunodeficiency
Created: 6 Jul 2018, 12:24 p.m.

Created: 6 Jul 2018, 12:24 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019
IUIS Classification February 2018
IUIS Classification December 2019
IUIS Classification February 2018

Phenotypes

Recurrent infections, neutropenia, thrombocytopenia
Recurrent infections, thrombocytopenia
Immunodeficiencies affecting cellular and humoral immunity

OMIM

190010

Clinvar variants

Variants in TFRC

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

COVID-19 research Gene: TFRC