TBXAS1

thromboxane A synthase 1
OMIM: 274180, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TBXAS1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ghosal hematodiaphyseal syndrome, MIM# 231095

Green TBXAS1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ghosal hematodiaphyseal syndrome, MIM#231095

    Green TBXAS1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ghosal hematodiaphyseal syndrome, MIM# 231095

    Green TBXAS1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ghosal hematodiaphyseal syndrome MIM#231095

    Red TBXAS1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Ghosal haematodiaphyseal syndrome (MIM#231095)

    Green TBXAS1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ghosal hematodiaphyseal syndrome, MIM# 231095