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  3. TBXAS1
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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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ghosal hematodiaphyseal syndrome, MIM# 231095

Publications

Created: 16 Aug 2020, 6 a.m.
Last Modified: 16 Aug 2020, 6 a.m.
Panel version: Imported from Mendeliome panel version 0.3797

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Ghosal hematodiaphyseal syndrome MIM#231095
OMIM
274180
Clinvar variants
Variants in TBXAS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbxas1 has been classified as Green List (High Evidence).

6 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome MIM#231095

6 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBXAS1 were set to

6 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBXAS1 was added gene: TBXAS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN Mode of inheritance for gene: TBXAS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome 231095