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Skeletal dysplasia v1.153 | SEC24D | Eleanor Williams Added phenotypes Osteogenesis Imperfecta, Cole Carpenter syndrome; Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA for gene: SEC24D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SEC24D | Tracy Lester reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683121; Phenotypes: Cole-Carpenter syndrome, Osteogenesis Imperfecta, Cole Carpenter syndrome, SYNDROMIC OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SEC24D | Eleanor Williams reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SEC24D |
Eleanor Williams Source NHS GMS was added to SEC24D. Rating Changed from Green List (high evidence) to Green List (high evidence) |