Bleeding and platelet disorders
Gene: THBD
Two families reported only with a bleeding disorder and variants in the transmembrane domain.Created: 16 Aug 2020, 7:54 a.m. | Last Modified: 16 Aug 2020, 7:54 a.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bleeding disorder
Publications
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
614486 Thrombophilia due to thrombomodulin defect
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AD bleeding disorder
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
614486 Thrombophilia due to thrombomodulin defect
Variants in this GENE are reported as part of current diagnostic practice
Use with caution when reporting variants outside the transmembrane domainCreated: 18 Mar 2019, 3:41 p.m.
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 3:40 p.m.
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: THBD; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; 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: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: N/A AD bleeding disorder; PMID(s): 25564403Created: 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: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; 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: THBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): 25049278; 27479822; 29145514; 28267383Created: 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
Gene: thbd has been classified as Green List (High Evidence).
Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Source North West GLH was added to THBD.
Added phenotypes AD bleeding disorder for gene: THBD Publications for gene THBD were changed from 25049278; 27479822; 28267383; 29145514 to 25564403
Source Yorkshire and North East GLH was added to THBD.
Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Source London South GLH was added to THBD.
Source NHS GMS was added to THBD.
Source Expert Review Green was added to THBD. Mode of inheritance for gene THBD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD Publications for gene THBD were changed from to 25049278; 27479822; 28267383; 29145514 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: THBD was added gene: THBD was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: THBD was set to