Genomics England
GMS Panels
Panels
Genes and Entities

SLC40A1

solute carrier family 40 member 1
OMIM: 604653
PanelMode of inheritanceDetails
2 panels
Green
in Iron metabolism disorders - NOT common HFE mutations
R-numbers: R96
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hemochromatosis, type 4 OMIM:606069, hemochromatosis type 4 MONDO:0011631
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemochromatosis, type 4 606069 (Disorder of iron metabolism), Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)