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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | PHEX | Tracy Lester reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: 17551721, 19242361; Phenotypes: X-linked hypophosphataemic rickets; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | PHEX | Eleanor Williams reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | PHEX |
Eleanor Williams Source NHS GMS was added to PHEX. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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