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| Bleeding and Platelet Disorders v2.0 | THBD | Gene migrated from ENSG00000178726 to ENSG00000178726 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.65 | THBD | Zornitza Stark Phenotypes for gene: THBD were changed from Bleeding disorder to Thrombophilia 12 due to thrombomodulin defect, MIM# 614486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.64 | THBD | Zornitza Stark Publications for gene: THBD were set to 32634856; 25564403; 32935436; 25049278; 27436851; 28267383; 10627464 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.63 | THBD | Zornitza Stark edited their review of gene: THBD: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.63 | THBD |
Zornitza Stark edited their review of gene: THBD: Added comment: PMID 39841007: identified 8 THBD variants for 6 patients with a thrombotic (C175S, A282P, L433P, P501L, G502R, and P508L) and 2 patients with a bleeding (P260A and T478I) phenotypes from a large cohort. Functional evidence supporting pathogenicity only generated for two of the variants, functional effects of L433P and potentially C175S. PMID 34474479: single individual with homozygous missense variant, c.793T>A (p.Cys265Ser) and potentially life-threatening bleeding events.; Changed publications: 25564403, 32634856, 39841007, 34474479; Changed phenotypes: Thrombophilia 12 due to thrombomodulin defect, MIM# 614486 |
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| Bleeding and Platelet Disorders v0.206 | THBD | Bryony Thompson Publications for gene: THBD were set to 25564403; 32634856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.205 | THBD | Bryony Thompson Classified gene: THBD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.205 | THBD | Bryony Thompson Gene: thbd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.204 | THBD | Bryony Thompson reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulinâassociated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.178 | THBD | Zornitza Stark Marked gene: THBD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.178 | THBD | Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.178 | THBD | Zornitza Stark Classified gene: THBD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.178 | THBD | Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.177 | THBD |
Zornitza Stark gene: THBD was added gene: THBD was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THBD were set to 25564403; 32634856 Phenotypes for gene: THBD were set to Bleeding disorder Review for gene: THBD was set to AMBER Added comment: Variants in this gene have been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain. Sources: Expert list |
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