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Skeletal dysplasia v1.153 | CANT1 | Eleanor Williams Added phenotypes Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719. for gene: CANT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | CANT1 | Tracy Lester reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Desbuquois dysplasia 1 251450, multiple epiphyseal dysplasia type 7, 617719.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | CANT1 | Eleanor Williams reviewed gene: CANT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | CANT1 |
Eleanor Williams Source NHS GMS was added to CANT1. Rating Changed from Green List (high evidence) to Green List (high evidence) |