Skeletal dysplasia
Gene: TBXAS1
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ghosal hematodiaphyseal syndrome 231095
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: greenCreated: 6 Mar 2019, 11:37 a.m.
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 dysplasiaCreated: 12 Jul 2016, 1:40 p.m.
Tier 1Created: 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
Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome, OMIM:231095
Tag for-review was removed from gene: TBXAS1.
Mode of inheritance for gene TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag for-review tag was added to gene: TBXAS1.
Mode of inheritance for gene: TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Ghosal hematodiaphyseal syndrome 231095 for gene: TBXAS1
Source NHS GMS was added to TBXAS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TBXAS1 were set to Ghosal hematodiaphyseal syndrome 231095
Mode of inheritance for TBXAS1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
TBXAS1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
TBXAS1 was added to Unexplained skeletal dysplasiapanel. Sources:
TBXAS1 was created by sleigh