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  3. TBXAS1
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Inherited bleeding disorders

Gene: TBXAS1

Green List (high evidence)
TBXAS1 (thromboxane A synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000059377
EnsemblGeneIds (GRCh37): ENSG00000059377
OMIM: 274180, Gene2Phenotype
TBXAS1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ghosal syndrome

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ghosal syndrome

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance
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
OMIM
274180
Clinvar variants
Variants in TBXAS1
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TBXAS1 were changed from Ghosal syndrome to Ghosal hematodiaphyseal syndrome, OMIM:231095; ?Thromboxane synthase deficiency, OMIM:614158; Bleeding disorder, platelet-type, 14, OMIM:614158

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

TBXAS1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TBXAS1 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TBXAS1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene