Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | ITGB3 | Louise Daugherty Mode of inheritance for gene ITGB3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ITGB3 | Louise Daugherty reviewed gene: ITGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ITGB3 | Louise Daugherty Publications for gene ITGB3 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ITGB3 | Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ITGB3 | Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ITGB3 | Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ITGB3 | Louise Daugherty Added phenotypes Purpura, posttransfusion; Thrombocytopenia, neonatal alloimmune; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Glanzmann thrombasthenia, 273800 for gene: ITGB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ITGB3 | Louise Daugherty Source Next Generation Children Project was added to ITGB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ITGB3 |
Louise Daugherty Source Expert Review Green was added to ITGB3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | ITGB3 |
Louise Daugherty gene: ITGB3 was added gene: ITGB3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ITGB3 was set to |