STEAP3

STEAP3 metalloreductase
OMIM: 609671, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red STEAP3 in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
Tags
  • disputed

Red STEAP3 in Red cell disorders


Level 2: Haematological disorders
Version 1.39

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
  • Wessex and West Midlands GLH
  • NHS GMS
Phenotypes
  • Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
Tags
  • disputed

Red STEAP3 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.52

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS Genomic Medicine Service
    • Genomics England PanelApp
    Phenotypes
    • Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
    Tags
    • disputed