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Skeletal dysplasia v1.153 | IFT122 | Eleanor Williams Added phenotypes Cranioectodermal dysplasia 1 218330 for gene: IFT122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | IFT122 | Tracy Lester reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioectodermal dysplasia 1 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | IFT122 | Eleanor Williams reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | IFT122 |
Eleanor Williams Source NHS GMS was added to IFT122. Rating Changed from Green List (high evidence) to Green List (high evidence) |