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Skeletal dysplasia v1.153 PHEX Eleanor Williams Added phenotypes Hypophosphatemic rickets, X-linked dominant 307800 for gene: PHEX
Skeletal dysplasia v1.147 PHEX Tracy Lester reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets, X-linked dominant 307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.146 PHEX Eleanor Williams reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 PHEX Eleanor Williams Source NHS GMS was added to PHEX.
Rating Changed from Green List (high evidence) to Green List (high evidence)