Genomics England
GMS Panels
Panels
Genes and Entities

TBXAS1

thromboxane A synthase 1
OMIM: 274180
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ghosal hematodiaphyseal syndrome, OMIM:231095, ?Thromboxane synthase deficiency, OMIM:614158, Bleeding disorder, platelet-type, 14, OMIM:614158
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GHOSAL HEMATODIAPHYSEAL SYNDROME 231095
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ghosal hematodiaphyseal syndrome, OMIM:231095