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Skeletal dysplasia v1.153 | IFT172 | Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; SRTD10 for gene: IFT172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | IFT172 | Tracy Lester reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRTD10, Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | IFT172 | Eleanor Williams reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | IFT172 |
Eleanor Williams Source NHS GMS was added to IFT172. Rating Changed from Green List (high evidence) to Green List (high evidence) |