Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.12 | SPTA1 | Louise Daugherty reviewed gene: SPTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SPTA1 | Louise Daugherty Publications for gene SPTA1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SPTA1 | Louise Daugherty Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPTA1 | Louise Daugherty Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPTA1 | Louise Daugherty Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPTA1 | Louise Daugherty Added phenotypes Pyropoikilocytosis, 266140; Spherocytosis, type 3, 270970; Elliptocytosis-2, 130600 for gene: SPTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPTA1 |
Louise Daugherty Mode of inheritance for gene SPTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | SPTA1 | Louise Daugherty Source Next Generation Children Project was added to SPTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SPTA1 |
Louise Daugherty Source Expert Review Green was added to SPTA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | SPTA1 |
Louise Daugherty gene: SPTA1 was added gene: SPTA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SPTA1 was set to |