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Skeletal dysplasia v1.153 | ACP5 | Eleanor Williams Added phenotypes Spondyloenchondrodysplasia with immune dysregulation 607944 for gene: ACP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ACP5 | Tracy Lester reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloenchondrodysplasia with immune dysregulation 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ACP5 | Eleanor Williams reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ACP5 |
Eleanor Williams Source NHS GMS was added to ACP5. Rating Changed from Green List (high evidence) to Green List (high evidence) |