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Skeletal dysplasia v1.153 | SBDS | Eleanor Williams Added phenotypes Shwachman-Diamond syndrome 260400 for gene: SBDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SBDS | Tracy Lester reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SBDS | Eleanor Williams reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SBDS |
Eleanor Williams Source NHS GMS was added to SBDS. Rating Changed from Green List (high evidence) to Green List (high evidence) |