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Severe Paediatric Disorders v0.12 | TTR | Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TTR | Louise Daugherty Publications for gene TTR were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TTR | Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | TTR | Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | TTR | Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | TTR | Louise Daugherty Added phenotypes Amyloidosis, hereditary, transthyretin-related, 105210; Carpal tunnel syndrome, familial, 115430 for gene: TTR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v0.8 | TTR |
Louise Daugherty Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR |
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Severe Paediatric Disorders v0.7 | TTR | Louise Daugherty Source Next Generation Children Project was added to TTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TTR |
Louise Daugherty Source Expert Review Green was added to TTR. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TTR |
Louise Daugherty gene: TTR was added gene: TTR was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TTR was set to |