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Skeletal dysplasia v1.153 IFT80 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly 611263 for gene: IFT80
Skeletal dysplasia v1.147 IFT80 Tracy Lester reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly 611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 IFT80 Eleanor Williams reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 IFT80 Eleanor Williams Source NHS GMS was added to IFT80.
Rating Changed from Green List (high evidence) to Green List (high evidence)