Genomics England
GMS Panels
Panels
Genes and Entities

TFR2

transferrin receptor 2
OMIM: 604720
PanelMode of inheritanceDetails
2 panels
Green
in Iron metabolism disorders - NOT common HFE mutations
R-numbers: R96
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 3 OMIM:604250, hemochromatosis type 3 MONDO:0011417
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 3 604250, Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)