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Skeletal dysplasia v1.153 | FUCA1 | Eleanor Williams Added phenotypes Fucosidosis 230000 for gene: FUCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | FUCA1 | Tracy Lester reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fucosidosis 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | FUCA1 | Eleanor Williams reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | FUCA1 |
Eleanor Williams Source NHS GMS was added to FUCA1. Rating Changed from Green List (high evidence) to Green List (high evidence) |