TBXAS1:Ensemblv115

thromboxane A synthase 1
OMIM: 274180, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TBXAS1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

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

Green TBXAS1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

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

Green TBXAS1 in Osteopetrosis


Level 2: Skeletal disorders
Version 1.0

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

Green TBXAS1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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

Green TBXAS1 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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