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  3. TFRC
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: TFRC

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • thrombocytopaenia
  • recurrent infections, neutorpaenia
  • Immunodeficiency 46, MIM#616740
  • B cells: normal number, low memory B cells
  • T cells: normal number, poor proliferation
OMIM
190010
Clinvar variants
Variants in TFRC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TFRC was added gene: TFRC was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 26642240 Phenotypes for gene: TFRC were set to thrombocytopaenia; recurrent infections, neutorpaenia; Immunodeficiency 46, MIM#616740; B cells: normal number, low memory B cells; T cells: normal number, poor proliferation