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Skeletal dysplasia v1.153 | AGPS | Eleanor Williams Added phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 for gene: AGPS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | AGPS | Tracy Lester reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | AGPS | Eleanor Williams reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | AGPS |
Eleanor Williams Source NHS GMS was added to AGPS. Rating Changed from Green List (high evidence) to Green List (high evidence) |