PanelApp (stage)
  1. Genes and Genomic Entities
  2. TFRC

TFRC

transferrin receptor
OMIM: 190010, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TFRC in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 46, MIM# 616740
  • T cells: normal number, poor proliferation
  • B cells: normal number, low memory B cells
  • recurrent infections, neutorpaenia
  • thrombocytopaenia

Amber TFRC in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Immunodeficiency 46, MIM# 616740
    • T cells: normal number, poor proliferation
    • B cells: normal number, low memory B cells
    • recurrent infections, neutorpaenia
    • thrombocytopaenia

    Amber TFRC in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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