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Severe Paediatric Disorders v0.12 | PHIP | Louise Daugherty reviewed gene: PHIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PHIP | Louise Daugherty Publications for gene PHIP were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PHIP | Louise Daugherty Mode of inheritance for gene PHIP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PHIP | Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PHIP | Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PHIP | Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PHIP | Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PHIP | Louise Daugherty Source Next Generation Children Project was added to PHIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PHIP |
Louise Daugherty Source Expert Review Green was added to PHIP. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PHIP |
Louise Daugherty gene: PHIP was added gene: PHIP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PHIP was set to |