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Severe Paediatric Disorders v0.12 | SETBP1 | Louise Daugherty reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SETBP1 | Louise Daugherty Publications for gene SETBP1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SETBP1 | Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SETBP1 | Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SETBP1 | Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SETBP1 | Louise Daugherty Added phenotypes Schinzel-Giedion midface retraction syndrome, 269150; Mental retardation, autosomal dominant 29, 616078 for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SETBP1 |
Louise Daugherty Mode of inheritance for gene SETBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1 |
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Severe Paediatric Disorders v0.7 | SETBP1 | Louise Daugherty Source Next Generation Children Project was added to SETBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SETBP1 |
Louise Daugherty Source Expert Review Green was added to SETBP1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SETBP1 |
Louise Daugherty gene: SETBP1 was added gene: SETBP1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SETBP1 was set to |