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Severe Paediatric Disorders v0.12 | PHEX | Louise Daugherty reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PHEX | Louise Daugherty Publications for gene PHEX were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PHEX | Louise Daugherty Mode of inheritance for gene PHEX 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 | PHEX | Louise Daugherty Added phenotypes Hypophosphatemic rickets, X-linked dominant, 307800 for gene: PHEX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PHEX | Louise Daugherty Added phenotypes Hypophosphatemic rickets, X-linked dominant, 307800 for gene: PHEX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PHEX | Louise Daugherty Added phenotypes Hypophosphatemic rickets, X-linked dominant, 307800 for gene: PHEX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PHEX | Louise Daugherty Added phenotypes Hypophosphatemic rickets, X-linked dominant, 307800 for gene: PHEX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PHEX | Louise Daugherty Source Next Generation Children Project was added to PHEX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PHEX |
Louise Daugherty Source Expert Review Green was added to PHEX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PHEX |
Louise Daugherty gene: PHEX was added gene: PHEX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PHEX was set to |