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Skeletal dysplasia
Gene: TBXAS1

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Variants in the AD form are associated with a bleeding disorder - no evidence of skeletal dysplasia in these patients. Mode of inheritance should just be biallelic for the skeletal dysplasia panel.
Created: 14 Feb 2020, 3:56 p.m. | Last Modified: 14 Feb 2020, 3:56 p.m.

Panel Version: 2.3

Other sclerosing bone disorders gp of SD - >3 families; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ghosal hematodiaphyseal syndrome 231095

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 2.3

Eleanor Williams (Genomics England Curator)

I don't know

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 6 Mar 2022, 5:41 p.m. | Last Modified: 6 Mar 2022, 5:56 p.m.

Panel Version: 2.181

Comment on mode of inheritance: Leaving the mode of inheritance as BOTH for now, but with recommendation to change to just BIALLELIC following expert review that monallelic inheritance is not seen in the skeletal phenotype.
Created: 21 Jan 2021, 4:45 p.m. | Last Modified: 21 Jan 2021, 4:45 p.m.

Panel Version: 2.76

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TBXAS1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.
Last Modified: 6 Mar 2022, 5:56 p.m.
Panel version: 2.176

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 12 Jul 2016, 1:40 p.m.

Comment on phenotypes: Association also reported with Thromboxane synthase deficiency 614158, but this phenotype is not relevant to skeletal dysplasia
Created: 12 Jul 2016, 1:40 p.m.

Created: 12 Jul 2016, 1:40 p.m.

Panel version: 0.619

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Thromboxane synthase deficiency 614158; Ghosal hematodiaphyseal syndrome 231095

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

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Expert list
UKGTN

Phenotypes

Ghosal hematodiaphyseal syndrome, OMIM:231095

OMIM

274180

Clinvar variants

Variants in TBXAS1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 Mar 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome, OMIM:231095

6 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: TBXAS1.

6 Mar 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

4 Feb 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: TBXAS1.

21 Jan 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Ghosal hematodiaphyseal syndrome 231095 for gene: TBXAS1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TBXAS1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4