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Mendeliome

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ghosal hematodiaphyseal syndrome, MIM# 231095
OMIM
274180
Clinvar variants
Variants in TBXAS1
Penetrance
None
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBXAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBXAS1 was added gene: TBXAS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBXAS1 was set to Unknown