Genomics England
GMS Panels
Panels
Genes and Entities

HFE2

hemochromatosis type 2 (juvenile)
OMIM: 608374
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 2A OMIM:602390
Green
in Likely inborn error of metabolism
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 2A, 602390, Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)