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Severe Paediatric Disorders v0.12 | UPF3B | Louise Daugherty reviewed gene: UPF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | UPF3B | Louise Daugherty Publications for gene UPF3B were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | UPF3B | Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | UPF3B | Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | UPF3B | Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | UPF3B | Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | UPF3B |
Louise Daugherty Mode of inheritance for gene UPF3B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B |
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Severe Paediatric Disorders v0.7 | UPF3B | Louise Daugherty Source Next Generation Children Project was added to UPF3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | UPF3B |
Louise Daugherty Source Expert Review Green was added to UPF3B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | UPF3B |
Louise Daugherty gene: UPF3B was added gene: UPF3B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: UPF3B was set to |