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Skeletal dysplasia v1.153 | PDE4D | Eleanor Williams Added phenotypes Acrodysostosis 2, with or without hormone resistance 614613 for gene: PDE4D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PDE4D | Tracy Lester reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PDE4D | Eleanor Williams reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PDE4D |
Eleanor Williams Source NHS GMS was added to PDE4D. Rating Changed from Green List (high evidence) to Green List (high evidence) |