TFRC:Ensemblv115

transferrin receptor
OMIM: 190010, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TFRC in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 46, MIM# 616740
  • TFRC-related combined immunodeficiency MONDO:0014760

Amber TFRC in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of iron metabolism
  • TFRC-related combined immunodeficiency MONDO:0014760