TMPRSS6

transmembrane protease, serine 6
OMIM: 609862, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green TMPRSS6 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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Iron-Refractory Iron Deficiency Anemia
  • Iron refractoryirondeficiencyanemia,206200
Green TMPRSS6 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
  • Iron-Refractory Iron Deficiency Anemia
  • 206200 Iron refractoryirondeficiencyanemia
  • Iron refractoryirondeficiencyanemia,206200
Green TMPRSS6 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
  • 206200 Iron-refractory iron deficiency anemia
  • IRIDA
  • 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Red TMPRSS6 in Fetal anomalies


Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Green TMPRSS6 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200
    Red TMPRSS6 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Iron-refractory iron deficiency anemia, 206200
    Green TMPRSS6 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Iron-refractory iron deficiency anemia, 206200