Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Skeletal dysplasia v1.153 | FGF16 | Eleanor Williams Added phenotypes Metacarpal 4-5 fusion 309630 for gene: FGF16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | FGF16 | Tracy Lester reviewed gene: FGF16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metacarpal 4-5 fusion 309630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | FGF16 | Eleanor Williams reviewed gene: FGF16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | FGF16 |
Eleanor Williams Source NHS GMS was added to FGF16. Rating Changed from Green List (high evidence) to Green List (high evidence) |