STEAP3

STEAP3 metalloreductase
OMIM: 609671, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red STEAP3 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 2.0

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
Tags
  • disputed