STEAP3:Ensemblv115

STEAP3 metalloreductase
OMIM: 609671, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red STEAP3 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

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