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  2. Bleeding and Platelet Disorders
  3. TBXAS1
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Bleeding and Platelet 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Thrombocytopaenia is a feature of this condition.
Sources: Expert list
Created: 16 Aug 2020, 5:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ghosal hematodiaphyseal syndrome, MIM# 231095

Publications

Created: 16 Aug 2020, 5:59 a.m.

Panel version: 0.167

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ghosal hematodiaphyseal syndrome, MIM# 231095
OMIM
274180
Clinvar variants
Variants in TBXAS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Aug 2020, 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).

16 Aug 2020, 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).

16 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBXAS1 was added gene: TBXAS1 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBXAS1 were set to 18264100 Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095 Review for gene: TBXAS1 was set to GREEN