| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.77 | ITGB3 | Zornitza Stark Marked gene: ITGB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.77 | ITGB3 | Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.77 | ITGB3 | Zornitza Stark Classified gene: ITGB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.77 | ITGB3 | Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.76 | ITGB3 |
Zornitza Stark gene: ITGB3 was added gene: ITGB3 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: ITGB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ITGB3 were set to Bleeding disorder, platelet-type, 24, MIM#619271 Review for gene: ITGB3 was set to GREEN Added comment: STRONG actionability by ClinGen. GT is a moderate to severe haemorrhagic disorder characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma or surgical procedures due to defective platelet aggregation. Purpura, easy bruising, epistaxis, gingival bleeding and menorrhagia are the most common clinical features. Presentation is typically in infancy but severity can be variable. A range of treatments available depending on severity as guided by specialist haematological services. Sources: Expert list |
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