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Skeletal dysplasia v1.153 | C2CD3 | Eleanor Williams Added phenotypes Orofaciodigital syndrome XIV 615948 for gene: C2CD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | C2CD3 | Tracy Lester reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Orofaciodigital syndrome XIV 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | C2CD3 | Eleanor Williams reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | C2CD3 |
Eleanor Williams Source NHS GMS was added to C2CD3. Rating Changed from Green List (high evidence) to Green List (high evidence) |