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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: Thrombomodulin‐associated 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