1. Genes and Genomic Entities
  2. TBXAS1

TBXAS1

thromboxane A synthase 1
OMIM: 274180, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TBXAS1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Ghosal hematodiaphyseal syndrome, OMIM:231095
  • ?Thromboxane synthase deficiency, OMIM:614158
  • Bleeding disorder, platelet-type, 14, OMIM:614158
Green TBXAS1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Ghosal hematodiaphyseal syndrome, OMIM:231095
    Green TBXAS1 in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		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
    • Ghosal hematodiaphyseal syndrome, OMIM:231095
    • ?Thromboxane synthase deficiency, OMIM:614158
    • Bleeding disorder, platelet-type, 14, OMIM:614158
    Red TBXAS1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • GHOSAL HEMATODIAPHYSEAL SYNDROME
    Green TBXAS1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GHOSAL HEMATODIAPHYSEAL SYNDROME 231095
    Red TBXAS1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    • Ghosal hematodiaphyseal syndrome, OMIM:231095