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Skeletal dysplasia

Gene: TBXAS1

Green List (high evidence)

TBXAS1 (thromboxane A synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000059377
EnsemblGeneIds (GRCh37): ENSG00000059377
OMIM: 274180, Gene2Phenotype
TBXAS1 is in 7 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

Eleanor Williams (Genomics England Curator)

I don't know

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.

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.

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

Details

Mode of Inheritance
BOTH monoallelic and 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 231095
Tags
for-review
OMIM
274180
Clinvar variants
Variants in TBXAS1
Penetrance
Complete
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

12 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Jul 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TBXAS1 were set to Ghosal hematodiaphyseal syndrome 231095

12 Jul 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

12 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

TBXAS1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TBXAS1 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TBXAS1 was added to Unexplained skeletal dysplasiapanel. Sources: