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Severe Paediatric Disorders v0.12 | RPS6KA3 | Louise Daugherty reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | RPS6KA3 | Louise Daugherty Publications for gene RPS6KA3 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | RPS6KA3 | Louise Daugherty Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | RPS6KA3 | Louise Daugherty Added phenotypes Coffin-Lowry syndrome, 303600; Mental retardation, X-linked 19, 300844 for gene: RPS6KA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | RPS6KA3 | Louise Daugherty Added phenotypes Coffin-Lowry syndrome, 303600; Mental retardation, X-linked 19, 300844 for gene: RPS6KA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | RPS6KA3 | Louise Daugherty Added phenotypes Coffin-Lowry syndrome, 303600; Mental retardation, X-linked 19, 300844 for gene: RPS6KA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | RPS6KA3 | Louise Daugherty Added phenotypes Coffin-Lowry syndrome, 303600; Mental retardation, X-linked 19, 300844 for gene: RPS6KA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | RPS6KA3 | Louise Daugherty Source Next Generation Children Project was added to RPS6KA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | RPS6KA3 |
Louise Daugherty Source Expert Review Green was added to RPS6KA3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | RPS6KA3 |
Louise Daugherty gene: RPS6KA3 was added gene: RPS6KA3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RPS6KA3 was set to |