SLC11A2

solute carrier family 11 member 2
OMIM: 600523, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SLC11A2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Anemia, hypochromic microcytic, with iron overload 1 206100
Green SLC11A2 in Rare anaemia


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Anemia, hypochromic microcytic, with iron overload 1, 206100
  • 206100 Anemia, hypochromic microcytic, with iron overload 1
Green SLC11A2 in Iron metabolism disorders - NOT common HFE mutations


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100
  • microcytic anemia with liver iron overload MONDO:0008787
Green SLC11A2 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Anemia, hypochromic microcytic, with iron overload 1, 206100