TMPRSS6:Ensemblv115

transmembrane serine protease 6
OMIM: 609862, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TMPRSS6 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
Phenotypes
  • Iron-refractory iron deficiency anaemia MIM# 206200
  • Iron malabsorption
  • hypochromic microcytic anaemia

Green TMPRSS6 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
  • NHS Genomic Medicine Service
Phenotypes
  • IRIDA
  • 206200 Iron-refractory iron deficiency anemia
  • 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA