Metal Metabolism Disorders

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
Phenotypes
  • Disorders of iron metabolism
  • TFRC-related combined immunodeficiency MONDO:0014760
OMIM
190010
Clinvar variants
Variants in TFRC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TFRC was added gene: TFRC was added to Metal Metabolism Disorders. Sources: 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 Disorders of iron metabolism; TFRC-related combined immunodeficiency MONDO:0014760