HEPH

hephaestin
OMIM: 300167, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red HEPH in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.45

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • NHS Genomic Medicine Service
    • Genomics England PanelApp
    Phenotypes
    • Iron metabolism defect