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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Ghosal syndrome
OMIM
274180
Clinvar variants
Variants in TBXAS1
Penetrance
Complete
Panels with this gene

History Filter Activity

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