STEAP3

STEAP3 metalloreductase
OMIM: 609671, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber STEAP3 in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • hypochromic anaemia
Amber STEAP3 in Iron metabolism disorders - NOT common HFE mutations


Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234
  • severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094