Bleeding and platelet disorders
Gene: TBXAS1
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 13 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 1:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submittedCreated: 13 Feb 2019, 11:34 a.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submittedCreated: 7 Feb 2019, 1:28 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency; 231095 Ghosal hematodiaphyseal syndrome; PMID(s): 18264100; 28868793Created: 5 Feb 2019, 1:26 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TBXAS1 were changed from 231095 Ghosal hematodiaphyseal syndrome; 614158 ?Thromboxane synthase deficiency; 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome to Ghosal hematodiaphyseal syndrome, OMIM:231095; ?Thromboxane synthase deficiency, OMIM:614158; Bleeding disorder, platelet-type, 14, OMIM:614158
Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Source North West GLH was added to TBXAS1.
Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Source Yorkshire and North East GLH was added to TBXAS1.
Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Source London South GLH was added to TBXAS1.
Source NHS GMS was added to TBXAS1.
Source Expert Review Green was added to TBXAS1. Mode of inheritance for gene TBXAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 231095 Ghosal hematodiaphyseal syndrome; 614158 ?Thromboxane synthase deficiency for gene: TBXAS1 Publications for gene TBXAS1 were changed from to 18264100; 28868793 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TBXAS1 was added gene: TBXAS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TBXAS1 was set to