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Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Classified gene: SMAD4 as Green List (high evidence)
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Gene: smad4 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.143 SMAD4 Louise Daugherty gene: SMAD4 was added
gene: SMAD4 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder
Review for gene: SMAD4 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list