TBXAS1

thromboxane A synthase 1
OMIM: 274180
PanelMode of inheritanceDetails
3 panels
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
231095 Ghosal hematodiaphyseal syndrome, 614158 ?Thromboxane synthase deficiency, 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GHOSAL HEMATODIAPHYSEAL SYNDROME 231095
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ghosal hematodiaphyseal syndrome 231095