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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