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Skeletal dysplasia v1.153 | PPIB | Eleanor Williams Added phenotypes Osteogenesis imperfecta, type IX 259440 for gene: PPIB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PPIB | Tracy Lester reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type IX 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PPIB | Eleanor Williams reviewed gene: PPIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PPIB |
Eleanor Williams Source NHS GMS was added to PPIB. Rating Changed from Green List (high evidence) to Green List (high evidence) |