Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.17 GATA1 Louise Daugherty Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 GATA1 Louise Daugherty reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GATA1 Louise Daugherty Publications for gene GATA1 were updated from to 30847515
Severe Paediatric Disorders v0.10 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.9 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.9 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.8 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia with beta-thalassemia, X-linked, 314050; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1
Severe Paediatric Disorders v0.7 GATA1 Louise Daugherty Source Next Generation Children Project was added to GATA1.
Severe Paediatric Disorders v0.5 GATA1 Louise Daugherty Source Expert Review Green was added to GATA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GATA1 Louise Daugherty gene: GATA1 was added
gene: GATA1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to